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List of works by Luigi D Notarangelo

2nd Conference of the Robert A. Good immunology society primary immune deficiencies and immune reconstitution Harvard Medical Boston, November 16th, 17th

scientific article published on 01 January 2009

4 Primary immunodeficiency mutation databases

article

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

scientific article published on 13 February 2019

A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.

scientific article published on 7 January 2014

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

scientific article

A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome

scientific article published on May 2007

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

scientific article

A large-scale database of T-cell receptor beta (TCRβ) sequences and binding associations from natural and synthetic exposure to SARS-CoV-2

scientific article published on 04 August 2020

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

scientific journal article

A modified γ-retrovirus vector for X-linked severe combined immunodeficiency

scientific article

A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome

scientific article published in December 2004

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

scientific article

A novel mutation in the POLE2 gene causing combined immunodeficiency.

scientific article published on 11 September 2015

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

scientific article

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding ⬇️

scientific article published on March 3, 2011

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

scientific article

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

scientific article

A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin

scientific article published on 01 March 2005

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

scientific article

A three-dimensional model of human lung development and disease from pluripotent stem cells.

scientific article published on 24 April 2017

AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy

scientific article

AIRE deficiency in thymus of 2 patients with Omenn syndrome

scientific article

AIRE deficiency in thymus of 2 patients with Omenn syndrome

article

Abnormalities of T cell receptor repertoire in CD4(+) regulatory and conventional T cells in patients with RAG mutations: implications for autoimmunity

scientific article

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

scientific article published on 01 February 2020

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells

scientific article published on 06 February 2019

Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance

scientific article

Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans

scientific article

Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency

scientific article published on 30 August 2018

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation

scientific article published on 2 November 2012

Advances in basic and clinical immunology in 2012.

scientific article published on 29 January 2013

Advances in basic and clinical immunology in 2013

scientific article

Advances in basic and clinical immunology in 2014.

scientific article published on May 2015

Advances in clinical immunology in 2015.

scientific article published on December 2016

Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs

scientific article

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

scientific article

Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome

scientific article published on 16 March 2004

An exemplum of XLA.

scientific article published on 31 October 2007

An immune-based biomarker signature is associated with mortality in COVID-19 patients

scientific article published on 24 November 2020

An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome

scientific article

Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia

scientific article published on 8 March 2017

Applications of flow cytometry for the study of primary immune deficiencies

scientific article published on December 2008

Architecture of the human PI4KIIIα lipid kinase complex

scientific article published on 11 December 2017

Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia

scientific article published on 01 June 2020

Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma

scientific article published on 29 September 2020

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly

scientific article published on 9 October 2015

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?

scientific article

Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations

scientific article

Autonomous role of Wiskott-Aldrich Syndrome platelet deficiency in inducing autoimmunity and inflammation

scientific article published on 5 February 2018

B cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation.

scientific article

B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.

scientific article published in February 2012

B cell-intrinsic requirement for STK4 in humoral immunity in mice and human subjects

scientific article published on 20 February 2019

B-cell intrinsic TLR7 signals promote depletion of the marginal zone in a murine model of Wiskott-Aldrich syndrome

scientific article

BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia

scientific article published in March 2004

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

scientific article published on 05 November 2018

Bone marrow transplantation for severe combined immune deficiency

scientific article

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia

scientific article

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

scientific article

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

scientific article published in November 2016

C4b-Binding Protein (C4BP) Activates B Cells through the CD40 Receptor

scientific article published on 01 June 2003

CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-γ.

scientific article published on 5 March 2018

Cadherin 17 mutation associated with leaky severe combined immune deficiency is corrected by HSCT

scientific article published on 23 October 2017

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype

scientific article published on December 2008

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

scientific article published on 16 December 2016

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

scientific article (publication date: October 2003)

Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

scientific article published on 02 August 2019

Classification of primary immunodeficiency disorders: One-fits-all does not help anymore ⬇️

scientific article published on May 11, 2012

Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.

scientific article published on 24 March 2009

Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

scientific article

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India

scientific article published on 25 July 2018

Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study

scientific article published on 26 November 2007

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

scientific article published on 03 February 2011

Clinical spectrum, pathophysiology and treatment of the Wiskott–Aldrich syndrome ⬇️

scientific article published on January 1, 2011

Clinical, Immunological and Molecular Characteristics of 37 Iranian Patients with X-Linked Agammaglobulinemia

scientific article published on 30 August 2006

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

scientific article published on 30 March 2012

Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study

scientific article published in September 2002

Combined immunodeficiency in the United States and Kuwait: Comparison of patients' characteristics and molecular diagnosis

scientific article published on 3 August 2015

Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency.

scientific article

Complete Absence of CD3γ Protein Expression Is Responsible for Combined Immunodeficiency with Autoimmunity Rather than SCID

scientific article published on 19 November 2020

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population

scientific article published on 01 January 2018

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency

scientific article published on 05 September 2018

Cord Blood Banking for Potential Future Transplantation

scientific article published on 30 October 2017

Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers

scientific article published on 03 December 2020

Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

scientific article published on 29 August 2020

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

scientific article published on 10 October 2017

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Conso

scientific article published on 6 January 2017

Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn Syndrome

scientific article published on 17 April 2020

Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices

scientific article published on 30 April 2019

DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile

scientific article published on 16 October 2017

DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells

scientific article

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

scientific article

Damaging-agent sensitivity of Artemis-deficient cell lines

Deciphering Human Cell-Autonomous Anti-HSV-1 Immunity in the Central Nervous System

scientific article

Decreased IL-10 production by EBV-transformed B cells from patients with VODI: implications for the pathogenesis of Crohn disease

scientific article published on 16 February 2012

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint

scientific article published on 04 October 2016

Defect of regulatory T cells in patients with Omenn syndrome

scientific article published on 01 January 2010

Defective Th1 cytokine gene transcription in CD4+ and CD8+ T cells from Wiskott-Aldrich syndrome patients.

scientific article published on November 2006

Defective migration of monocyte-derived dendritic cells in LAD-1 immunodeficiency

scientific article published on 01 October 2002

Defects of class-switch recombination

scientific article

Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.

scientific article published on 17 October 2016

Defining a new immune deficiency syndrome: MAN2B2-CDG

scientific article published on 24 November 2019

Definition of primary immunodeficiency in 2011: a “trialogue” among friends

article published in 2011

Deletion of WASp and N-WASp in B cells cripples the germinal center response and results in production of IgM autoantibodies

scientific article published on 2 July 2015

Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency.

scientific article published on 21 August 2017

Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis

scientific article published on 27 June 2014

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

scientific article published on 24 April 2014

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

scientific article

Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome

scientific article published on 08 November 2014

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2

scientific article published on 21 June 2018

Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies

Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency

scientific article published in February 2003

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

scientific article

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

scientific article published on 19 September 2016

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

scientific article

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

scientific article published on 04 May 2009

Editorial: NK Cell Subsets in Health and Disease: New Developments

scientific article published on 18 October 2017

Efficacy of lentiviral mediated gene therapy in an Omenn syndrome Rag2 mouse model is not hindered by inflammation and immune dysregulation

scientific article published on 11 December 2017

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

scientific article published in Nature

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience

scientific article

Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.

scientific article

Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: modulatory role of regulatory B cells

scientific article

Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report

scientific article published on 08 April 2020

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity

scientific article published on 24 July 2013

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

scientific article

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects

scientific article published on 26 February 2019

Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3

scientific article published on April 2015

First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.

scientific article

First reported case of Omenn syndrome in a patient with reticular dysgenesis ⬇️

scientific article published on September 24, 2012

Flow Cytometry Identifies Risk Factors and Dynamic Changes in Patients with COVID-19

scientific article published on 27 June 2020

Friendly fire: anti-cytokine antibodies elicited by microbes.

scientific article published on September 2016

From Natural Killer Cell Receptor Discovery to Characterization of Natural Killer Cell Defects in Primary Immunodeficiencies

scientific article published on 24 July 2019

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

scientific article published on 25 April 2015

Functional characterization of natural killer cells in type I leukocyte adhesion deficiency

scientific article published on 01 February 2007

Functional defects of dendritic cells in patients with CD40 deficiency

scientific article published on 31 July 2003

Future of Care for Patients With Chronic Granulomatous Disease: Gene Therapy and Targeted Molecular Medicine

article

G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms.

scientific article published on 20 February 2007

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

scientific article published on 13 June 2019

Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

scientific article

Gene therapy for primary immunodeficiencies: Looking ahead, toward gene correction ⬇️

scientific article published on March 25, 2011

Generation of human induced pluripotent stem cell lines from patients with selective IgA deficiency

scientific article published on 22 October 2019

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.

scientific article

Genetic causes of bronchiectasis: primary immune deficiencies and the lung

scientific article

Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype

article

Genetically determined lymphopenia and autoimmune manifestations.

scientific article published on 09 April 2008

Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery

scientific article published on October 2014

Global study of primary immunodeficiency diseases (PI)--diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation.

scientific article published on October 2011

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

scientific article

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency

scientific article published on 20 May 2010

HPV: CIB1 is for EVER and EVER

scientific article published on 01 August 2018

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

scientific article published on 21 February 2020

Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene

scientific article

Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment

scientific article

Hematopoietic stem cell transplantation for hyper-IgM syndromes

scientific article

Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency

scientific article published on 6 April 2016

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

scientific article published on 22 August 2019

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome

scientific article

How I treat ADA deficiency

scientific article published on 28 July 2009

Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-γ.

scientific article published on 20 August 2016

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

scientific article published on 05 March 2019

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

scientific article published on 25 May 2015

Human RAG mutations: biochemistry and clinical implications

scientific article

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

scientific article published on 05 December 2019

Human iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection

article published in the Proceedings of the National Academy of Sciences of the United States of America

Human inborn errors of immunity: An expanding universe

scientific article published on 01 July 2020

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

scientific article published on 30 April 2019

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

scientific article

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

scientific article

Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity

article

Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment

scientific article

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

scientific article

Hypomorphic Rag1 mutations alter the pre-immune repertoire at early stages of lymphoid development.

scientific article

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo

scientific article published on 28 October 2011

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

scientific article

Identification of an infant with severe combined immunodeficiency by newborn screening ⬇️

scientific article published on October 8, 2010

Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders

scientific article published on 17 December 2014

IgG Fc glycosylation as an axis of humoral immunity in childhood

scientific article published on 24 October 2019

Immature B cells preferentially switch to IgE with increased direct Sμ to Sε recombination.

scientific article published on 5 December 2011

Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene

scientific article

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

scientific article (publication date: 26 September 2014)

Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency

scientific article published on 01 February 2020

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisita.

scientific article published on 17 March 2015

Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.

scientific article published on 11 October 2017

Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement

scientific article published in May 2002

Immunodeficiencies due to defects of class-switch recombination

scientific article published in January 2007

Immunodeficiencies with autoimmune consequences.

scientific article

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

scientific article

Immunological and genetic bases of new primary immunodeficiencies

scientific article published on November 2007

Impaired NK-cell migration in WAS/XLT patients: role of Cdc42/WASp pathway in the control of chemokine-induced beta2 integrin high-affinity state

scientific article

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

scientific article

Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis

scientific article

Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis.

scientific article published on March 2003

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management

scientific article

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

scientific article published in February 2018

Inborn errors of human JAKs and STATs

scientific article published in April 2012

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations

scientific article published on 15 February 2019

Indications for hemopoietic stem cell transplantation.

scientific article published in May 2010

Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies

scientific article

Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers

scientific article published on 02 October 2020

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

scientific article

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

scientific article published on June 2015

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

scientific article published on 28 June 2021

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

scientific article published on 28 February 2006

Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1.

scientific article published on March 2017

Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients

scientific article

Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia

scientific article published on 07 December 2012

Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs.

scientific article

Josiah F. Wedgwood (1950-2009).

scientific article published on 29 December 2009

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

scientific article

Lack of specific T- and B-cell clonal expansions in multiple sclerosis patients with progressive multifocal leukoencephalopathy

scientific article published on 12 November 2019

Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection

scientific article

Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency.

scientific article

Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells

scientific article published on 27 June 2014

Leukocyte trafficking in primary immunodeficiencies

scientific article published on 16 December 2008

Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation

scientific article published on 01 December 2020

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

scientific article published on 24 August 2018

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

scientific article published on 11 April 2016

Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency

scientific article published on 7 September 2007

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

scientific article

Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation

scientific article published on 27 September 2007

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

scientific article

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

scientific article published on 01 June 2019

Magnitude and Dynamics of the T-Cell Response to SARS-CoV-2 Infection at Both Individual and Population Levels

scientific article published on 04 August 2020

Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profile

scientific article published on 10 November 2012

Management of primary antibody deficiency with replacement therapy: summary of guidelines

scientific article published on 01 November 2008

Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006).

scientific article published on 14 February 2007

Matched unrelated bone marrow transplant for severe combined immunodeficiency.

scientific article

Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia

scientific article

Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.

scientific article published on 14 June 2016

Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways.

scientific article

Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome

scientific article published on 05 June 2007

Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19

scientific article published in 2022

Mutational Analysis of Human BAFF Receptor TNFRSF13C (BAFF-R) in Patients with Common Variable Immunodeficiency

article

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3

scientific article

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation

scientific article

Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency

scientific article published on 23 October 2002

N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndrome.

scientific article

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

scientific article

Natural killer cell deficiencies and severe varicella infection

Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient

scientific article published on 02 November 2015

Natural killer lymphoma/leukemia: an uncommon pediatric case with indolent course.

scientific article published in August 2004

Neutrophils drive type-I interferon production and autoantibodies in Wiskott-Aldrich syndrome

scientific article published on 12 February 2018

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States

scientific article published in August 2014

Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome

scientific article published on 18 July 2014

Next-Generation Sequencing Reveals Restriction and Clonotypic Expansion of Treg Cells in Juvenile Idiopathic Arthritis

scientific article

Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility

scientific article published on 01 February 2021

Novel Compound Heterozygous Mutations in ZAP70 Leading to a SCID Phenotype with Normal Downstream In vitro Signaling

scientific article published on 13 November 2020

Novel INHAT repressor (NIR) is required for early lymphocyte development

scientific article

Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD

scientific article published on 13 November 2019

Novel presentation of Omenn syndrome in association with aniridia

scientific article published on April 2009

Omenn syndrome in an infant with IL7RA gene mutation

scientific article published on 01 February 2006

Omenn syndrome: inflammation in leaky severe combined immunodeficiency

scientific article

Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis

scientific article published on 17 November 2008

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

scientific article published on 12 July 2012

Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency

scientific article published on 01 July 2003

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

scientific article published on 12 March 2019

PAX1 is essential for development and function of the human thymus

scientific article published on 01 February 2020

POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development

scientific article published on 02 November 2020

PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity.

scientific article published on 17 September 2014

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

scientific article published on 2 April 2015

Paravertebral mushroom: identification of a novel species of Phellinus as a human pathogen in chronic granulomatous disease.

scientific article

Parental Consanguinity and the Risk of Primary Immunodeficiency Disorders: Report from the Kuwait National Primary Immunodeficiency Disorders Registry ⬇️

scientific article published on July 27, 2010

Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function

scientific article published on 13 April 2018

Phosphate Transporter Profiles in Murine and Human Thymi Identify Thymocytes at Distinct Stages of Differentiation

scientific article published on 22 July 2020

Prenatal diagnosis of JAK3 deficient SCID

scientific article published in July 1999

Prenatal diagnosis of RAG-deficient Omenn syndrome

scientific article published on 01 January 2000

Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency

scientific article published on 14 April 2014

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. ⬇️

scientific article published on 22 February 2018

Primary Immune Deficiency Treatment Consortium (PIDTC) report

scientific article published on 15 October 2013

Primary Immune Deficiency Treatment Consortium (PIDTC) update

scientific article published on 22 April 2016

Primary immune deficiencies unravel the molecular basis of immune response.

scientific article published on March 2003

Primary immune deficiencies with aberrant IgE production

scientific article published on December 2008

Primary immunodeficiencies worldwide: an updated overview from the Jeffrey Modell Centers Global Network

scientific article

Primary immunodeficiencies: 2009 update

scientific article

Primary immunodeficiencies: increasing market share

article

Primary immunodeficiencies: novel genes and unusual presentations

scientific article published on 01 December 2019

Primary immunodeficiency diseases: an update

scientific article published in September 2004

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

scientific article

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005

scientific article (publication date: April 2006)

Primary immunodeficiency modeling with induced pluripotent stem cells

scientific article published on December 2011

Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment

scientific article published in January 2002

Prospective Study of a Novel, Radiation-Free, Reduced-Intensity Bone Marrow Transplantation Platform for Primary Immunodeficiency Diseases

scientific article published on 04 September 2019

RAG Deficiency: Two Genes, Many Diseases

scientific article published on 25 July 2018

RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.

scientific article published on 2 November 2017

RAG gene defects at the verge of immunodeficiency and immune dysregulation

scientific article published on 01 January 2019

RAG1 deficiency may present clinically as selective IgA deficiency

scientific article published on 6 March 2015

RAG1 reversion mosaicism in a patient with Omenn syndrome

scientific article published on 10 May 2014

Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes

scientific article published on 12 February 2016

Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes

scientific article published in May 2009

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype

article

Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium

scientific article published on 4 May 2017

Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts

scientific article

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia

scientific article

Reduction in the rate and improvement in the prognosis of COVID-19 in haematological patients over time

scientific article published on 07 August 2020

Reply to Narra

scientific article published on June 2009

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

scientific article published on 6 July 2015

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome

scientific article

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter

scientific article

Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

scientific article published on 23 January 2017

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery

scientific article published on 28 August 2018

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

scientific article

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

article by Hirotsugu Oda et al published 2019 in Frontiers in Immunology

Serological Responses to Human Virome Define Clinical Outcomes of Italian Patients Infected with SARS-CoV-2

scientific article published on 07 September 2020

Severe Combined Immunodeficiencies

Severe combined immunodeficiencies and related disorders

scientific article

Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders

scientific article published on 19 November 2013

Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation

scientific article

Severe influenza pneumonitis in children with inherited TLR3 deficiency

scientific article published on 19 June 2019

Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency

scientific article published on January 2009

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia

scientific article published on 05 September 2013

Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome

scientific article published on 18 September 2019

Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up

scientific article published on 14 July 2016

Stem cell transplantation in primary immunodeficiencies

scientific article published on December 2006

Structure and function of the Wiskott-Aldrich syndrome protein

scientific article

Survey on retransplantation criteria for patients with severe combined immunodeficiency.

scientific article published on 10 December 2013

T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency

article

T-cell defects in patients with germline mutations account for combined immunodeficiency

scientific article published on 25 September 2018

T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome.

scientific article published on August 2004

TLR3 controls constitutive IFN-β antiviral immunity in human fibroblasts and cortical neurons

scientific article published on 01 January 2021

Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders

scientific article published on March 2017

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

scientific article published on 10 June 2020

The Second Pediatric Blood and Marrow Transplant Consortium International Consensus Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation: Defining the Unique Late Effects of Children Undergoing Hematopoietic Cell [...]

scientific article

The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment

scientific article published on September 2007

The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)

scientific article published on 05 September 2018

The immunologic features of patients with early-onset and polyautoimmunity

scientific article published on 12 December 2019

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

scientific article published on 29 February 2024

The italian network of primary immunodeficiencies

article

The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.

scientific article published on 02 July 2013

The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies

scientific article published on 25 July 2012

Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development

scientific article published on 15 March 2019

Timely and spatially regulated maturation of B and T cell repertoire during human fetal development

scientific article published on February 2015

Toll receptor-mediated regulation of NADPH oxidase in human dendritic cells.

scientific article

Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?

scientific article published on 31 July 2010

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

scientific article

Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002

scientific article published on 02 October 2003

Treatment of immunodeficiency: long-term outcome and quality of life

scientific article published on December 2008

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

USIDNET: a strategy to build a community of clinical immunologists

scientific article

Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.

scientific article published on 18 August 2016

Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiency

scientific article

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations

scientific article

Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency

scientific article published on 21 October 2020

WASP and the phenotypic range associated with deficiency

scientific article

WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function

scientific article published on 04 September 2008

WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells

scientific article published on 12 February 2007

WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasis.

scientific article

WASPbase: a database of WAS- and XLT-causing mutations

What does it take to call it a pathogenic mutation?

scientific article published on 9 July 2008

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

scientific article

Wiskott-Aldrich syndrome

scientific article published on 01 January 2008

Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function

scientific journal article

Wiskott-Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma.

scientific article published on 3 December 2018

Wiskott—Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation ⬇️

scientific article published on October 1, 2003

X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update

scientific article published on January 2007

X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update

scientific article published on January 2008

X-linked immunodeficiencies

scientific article published in September 2004

X-linked lymphoproliferative disease: the dark side of 2b4 function

scientific article (publication date: 2001)

X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity

scientific article published on 09 April 2009

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

scientific article

ζ Chain-associated protein of 70 kDa (ZAP70) deficiency in human subjects is associated with abnormalities of thymic stromal cells: Implications for T-cell tolerance

scientific article published on 14 December 2012

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