List of works by Hans D. Ochs

476 Severe Autoimmunity with Polyarticular Joint Disease Requiring Anti-TNF Therapy and T+B-NK+ Immunodeficiency in a Family with Small Stature and Intermediate Radiation Sensitivity

A 71-year-old man with recurrent pulmonary mycobacterial avium complex infections and lymphopenia

scientific article published on 01 January 2020

A Novel Homozygous Mutation Leading to T-B+NK- SCID in Two Brazilian Patients

article

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

scientific article

A model for harmonizing flow cytometry in clinical trials

scientific article

A monoclonal antibody-defined membrane antigen complex is required for neutrophil-neutrophil aggregation

scientific article

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

scientific article published on 25 May 2013

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

scientific article

A potential screening tool for IPEX syndrome.

scientific article published in March 2007

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome

scientific article published on 01 August 2001

Abnormal primary antibody responses in pediatric trauma patients

scientific article

Absence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndrome

scientific article

Absence of erythrocyte adenosine deaminase associated with severe combined immunodeficiency ⬇️

scientific article published on February 1, 1974

Absence of functional fetal regulatory T cells in humans causes in utero organ-specific autoimmunity

scientific article published on 16 March 2017

Absence of memory B cells in patients with common variable immunodeficiency

scientific article published in April 2002

Accumulation of peripheral autoreactive B cells in the absence of functional human regulatory T cells.

scientific article published on 5 December 2012

Actin cytoskeletal function is spared, but apoptosis is increased, in WAS patient hematopoietic cells.

scientific article

Activated neutrophils disrupt endothelial monolayer integrity by an oxygen radical-independent mechanism

scientific article published on 01 February 1985

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

scientific article

Adenosine deaminase and nucleoside phosphorylase activity in patients with immunodeficiency syndromes ⬇️

scientific article published on June 1, 1979

Agammaglobulinemia: comorbidities and long-term therapeutic risks

All together to Fight Novel Coronavirus Disease (COVID-19)

scientific article published on 22 April 2020

Ambrisentan, an endothelin receptor type A-selective antagonist, inhibits cancer cell migration, invasion, and metastasis

scientific article published on 28 September 2020

An emerging era of clinical benefit from gene therapy

scientific article published in April 2015

Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor

scientific article

Analysis of somatic hypermutations in the IgM switch region in human B cells

scientific article published on 15 May 2014

Anti-CD3 antibodies modulate anti-factor VIII immune responses in hemophilia A mice after factor VIII plasmid-mediated gene therapy

scientific article published on 21 September 2009

Antibody responses to bacteriophage phi X174 in patients with adenosine deaminase deficiency ⬇️

scientific article published on September 1, 1992

Appearance of antibody-producing cells in the peripheral blood in response to immunization with a specific antigen

scientific article published on 01 January 1983

Astrovirus encephalitis in boy with X-linked agammaglobulinemia

scientific article

Autoantibodies targeting GPCRs and RAS-related molecules associate with COVID-19 severity

scientific article published on 09 March 2022

Autoimmunity and inflammation in X-linked agammaglobulinemia

scientific article

Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management.

scientific article

Autoimmunity in the relatives of patients with immunodeficiency diseases.

scientific article

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

scientific article published on 19 September 2017

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

scientific article

BTKbase: XLA-mutation registry

scientific article published on 01 November 1996

Bed rest and immunity

article

Bispecific monoclonal antibody complexes bound to primate erythrocyte complement receptor 1 facilitate virus clearance in a monkey model.

scientific article

Bispecific monoclonal antibody complexes facilitate erythrocyte binding and liver clearance of a prototype particulate pathogen in a monkey model

scientific article

CD4+ T-cell–directed antibody responses are maintained in patients with psoriasis receiving alefacept: results of a randomized study ⬇️

scientific article published on November 1, 2003

CD4+FOXP3+ regulatory T cells confer long-term regulation of factor VIII-specific immune responses in plasmid-mediated gene therapy-treated hemophilia mice

scientific article

CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance

scientific article

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

scientific article published on 5 March 2018

CD40 ligand deficiency: treatment strategies and novel therapeutic perspectives

scientific article published on 18 February 2019

CD40 ligand mutants responsible for X-linked hyper-IgM syndrome associate with wild type CD40 ligand

scientific article published in April 1999

Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry

scientific article published on 09 June 2017

Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: interleukin-15 binds to the B cells but is not internalized efficiently ⬇️

scientific article published on August 15, 1995

Characterization of soluble CD40 ligand released from human activated platelets

scientific article published on 01 March 2001

Characterization of the Wiskott-Aldrich syndrome protein and its role in the disease

scientific article

Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM.

scientific article published on January 1997

Class switch recombination defects: impact on b cell maturation and antibody responses

scientific article published on 01 December 2020

Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndrome

scientific article published on March 1996

Clinical and genetic aspects of intersexuality determined by XO-XY chromosome mosaic

scientific article published on 01 June 1969

Clinical course of patients with WASP gene mutations

scientific article

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

scientific article published on January 1, 2011

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

scientific article published on 01 November 2018

Coding-region alterations in BTK do not universally cause X-linked agammaglobulinemia

scientific article

Collagen induces tyrosine phosphorylation of Wiskott-Aldrich syndrome protein in human platelets.

scientific article

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

scientific article

Common variable immunodeficiency as the initial presentation of dyskeratosis congenita

scientific article published on 10 February 2013

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort

scientific article published on 19 September 2018

Complement, membrane glycoproteins, and complement receptors: their role in regulation of the immune response

scientific article

Comèl-Netherton syndrome defined as primary immunodeficiency

scientific article

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes

scientific article published on 12 September 2007

Controversies in IgG replacement therapy in patients with antibody deficiency diseases

scientific article published on April 2013

Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

scientific article published on 01 January 2020

Corrigendum: A Novel Homozygous Mutation Leading to T-B+NK- SCID in Two Brazilian Patients

article

Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

scientific article

Costimulation through CD28 enhances T cell-dependent B cell activation via CD40-CD40L interaction

scientific article published on 01 June 1994

Costimulation via Vascular Cell Adhesion Molecule-1 Induces in T Cells Increased Responsiveness to the CD28 Counter-receptor B7 ⬇️

scientific article published on April 15, 1993

Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific

scientific article published on 13 August 2020

DOCK8 and STAT3 dependent inhibition of IgE isotype switching by TLR9 ligation in human B cells.

scientific article published on 4 September 2017

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

scientific article

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

scientific article

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint

scientific article published on 04 October 2016

Defective antibody response to bacteriophage ØX 174 in Down syndrome ⬇️

scientific article published on February 1, 1975

Defective neutrophil chemotaxis with variant ichthyosis, hyperimmunoglobulinemia E, and recurrent infections ⬇️

scientific article published on December 1, 1975

Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis.

scientific article published on 10 December 2011

Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

scientific article

Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations.

scientific article published on 3 October 2007

Diagnosis and evaluation of primary panhypogammaglobulinemia: a molecular and genetic challenge

scientific article published on June 2013

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

scientific article published on 01 September 2010

Does graft-versus-host disease influence the tempo of immunologic recovery after allogeneic human marrow transplantation? An observation on 56 long-term survivors ⬇️

scientific article published on June 1, 1978

Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis

scientific article published on January 1, 1979

Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country.

scientific article published on 16 February 2018

Echovirus encephalitis/myositis in X-linked agammaglobulinemia

scientific article

Effect of rituximab on human in vivo antibody immune responses

scientific article published on 9 September 2011

Effect of therapeutic integrin (CD11a) blockade with efalizumab on immune responses to model antigens in humans: results of a randomized, single blind study

scientific article

Effects of administration of a single dose of a humanized monoclonal antibody to CD11a on the immunobiology and clinical activity of psoriasis

scientific article published on March 2000

Efficacy and Safety of Human Intravenous Immunoglobulin 10% (Panzyga®) in Patients with Primary Immunodeficiency Diseases: a Two-Stage, Multicenter, Prospective, Open-Label Study

scientific article published on 29 July 2017

Efficacy of a new intravenous immunoglobulin preparation in primary immunodeficient patients

scientific article published on 01 January 1987

Efficacy, pharmacokinetics, safety, and tolerability of Flebogamma 10% DIF, a high-purity human intravenous immunoglobulin, in primary immunodeficiency

scientific article published on 08 December 2009

Evaluation of CD4+ T cell function In vivo in HIV-infected patients as measured by bacteriophage phiX174 immunization.

scientific article published on 21 July 2000

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

scientific article published on 08 April 2020

Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients.

scientific article

FBP17 Mediates a Common Molecular Step in the Formation of Podosomes and Phagocytic Cups in Macrophages

scientific article published on 20 January 2009

FOXP3 acts as a rheostat of the immune response

scientific article

FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome

scientific article published on 01 October 2009

FOXP3 inhibits activation-induced NFAT2 expression in T cells thereby limiting effector cytokine expression.

scientific article

Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia.

scientific article published in August 2008

Fatal hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection in a patient with a novel mutation in the signaling lymphocytic activation molecule-associated protein

scientific article published on 17 October 2003

First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes

scientific article published on 9 January 2014

Flebogamma(®) 5 % DIF Intravenous Immunoglobulin for Replacement Therapy in Children with Primary Immunodeficiency Diseases

scientific article published on 8 June 2016

Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation

scientific article published on 26 November 2019

Flow cytometry-based diagnosis of primary immunodeficiency diseases

scientific article

From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders.

scientific article published on 21 September 2017

Full immunologic reconstitution following nonconditioned bone marrow transplantation for canine X-linked severe combined immunodeficiency

scientific article

Functional analysis of human memory B-cell subpopulations: IgD+CD27+ B cells are crucial in secondary immune response by producing high affinity IgM.

scientific article published in August 2003

Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemia

scientific article published on 01 October 1998

GPCR-specific autoantibody signatures are associated with physiological and pathological immune homeostasis

scientific article published in Nature Communications

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

scientific article

Gastrointestinal Manifestations in X-linked Agammaglobulinemia.

scientific article published on 24 February 2017

Gastrointestinal Manifestations of Chronic Granulomatous Disease ⬇️

scientific article published on February 22, 1973

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.

scientific article

Giardiasis with Malabsorption in X-Linked Agammaglobulinemia ⬇️

scientific article published on August 17, 1972

Health-Related Quality of Life and Health Resource Utilization in Patients with Primary Immunodeficiency Disease Prior to and Following 12 Months of Immunoglobulin G Treatment

scientific article published on 18 April 2016

Health-related quality of life and treatment satisfaction in North American patients with primary immunedeficiency diseases receiving subcutaneous IgG self-infusions at home

scientific article published on 01 January 2006

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

scientific article

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

scientific article published on 07 June 2017

Hepatitis C virus transmission by intravenous immunoglobulin

scientific article

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation

scientific article

History of primary immunodeficiency diseases

scientific article published on December 2012

Home self-administration of intravenous immunoglobulin therapy in children.

scientific article

Home-based immunoglobulin infusion therapy: quality of life and patient health perceptions

scientific article published in November 1991

Home-based subcutaneous immunoglobulin versus hospital-based intravenous immunoglobulin in treatment of primary antibody deficiencies: systematic review and meta analysis

scientific article published on 23 June 2012

Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency

scientific article published on 15 October 2019

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 Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

scientific article published on 01 January 2020

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

scientific article published on 17 January 2020

Human antibody responses to bacteriophage phi X 174: sequential induction of IgM and IgG subclass antibody

scientific article

Human monocyte adherence to cultured vascular endothelium: monoclonal antibody-defined mechanisms

scientific article published on October 1985

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

scientific article

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

scientific article published on 7 September 2003

Hyper IgE syndromes: clinical and molecular characteristics

scientific article published on 19 November 2018

Hyper IgM Syndrome: a Report from the USIDNET Registry

scientific article published on 17 May 2016

Hyper-IgE syndrome is not associated with defects in several candidate toll-like receptor pathway genes.

scientific article

IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena

scientific article

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

scientific article

Identification of FOXP3-negative regulatory T-like (CD4+CD25+CD127low) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Identification of residues on CD40 and its ligand which are critical for the receptor-ligand interaction

scientific article published on February 1995

IgG subclass deficiencies

scientific article

IgG subclass levels in the serum of patients with primary immunodeficiency

scientific article published on January 1986

IgM deficiency: clinical spectrum and immunologic assessment

scientific article published on June 1989

Images in immunodeficiency

Immune Response of a Patient with Deficiency of the Fourth Component of Complement and Systemic Lupus Erythematosus ⬇️

scientific article published on May 17, 1979

Immune deficiency in SCID mice

scientific article published on January 1996

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review

scientific article published on 29 March 2020

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression

scientific article

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a model of immune dysregulation

scientific article published on December 2002

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells

scientific article published on October 2007

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis

scientific article

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

scientific article published in May 2002

Immune regulation in the hyper-IgE/Job syndrome

scientific article published on 01 January 1983

Immune responses in adult female volunteers during the bed-rest model of spaceflight: antibodies and cytokines

scientific article

Immunoglobulin class responsible for gonococcal bactericidal activity of normal human sera ⬇️

scientific article published on May 1, 1979

Immunologic reactivity in marrow graft recipients

scientific article published on December 1, 1976

Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient

scientific article published on 25 October 2008

Immunologic reconstitution following bone marrow transplantation for X-linked hyper IgM syndrome

scientific article published in March 2001

Immunologic responses to bacteriophage ϕX 174 in immunodeficiency diseases ⬇️

scientific article published on December 1, 1971

Immunologic, toxicologic and marrow transplantation studies in dogs given dimethyl myleran

scientific article published on 01 September 1974

Immunomodulation of transgene responses following naked DNA transfer of human factor VIII into hemophilia A mice

scientific article published on 28 February 2006

Impaired in vivo and in vitro antibody responses to bacteriophage phi X 174 in juvenile rheumatoid arthritis

scientific article published on 01 October 1987

Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair

scientific article

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

scientific article

In vivo behavior of neutrophils from two patients with distinct inherited leukocyte adhesion deficiency syndromes ⬇️

scientific article published on June 1, 1993

In vivo neutrophil and lymphocyte function studies in a patient with leukocyte adhesion deficiency type II.

scientific article published in September 1994

Indications and safety of intravenous and subcutaneous immunoglobulin therapy

scientific article published on May 2011

Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis.

scientific article

Induction of T-lymphocyte differentiation by thymic epithelial cell monolayers ⬇️

scientific article published on July 1, 1978

Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses

scientific article published in April 2004

Interleukin-21 stimulates B-cell immunoglobulin E synthesis in human beings concomitantly with activation-induced cytidine deaminase expression and differentiation into plasma cells

scientific article published on 19 November 2008

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

scientific article published on 11 December 2017

Intra-amniotic inoculation of pigtailed macaque (Macaca nemestrina) fetuses with SIV and HIV-1.

scientific article published in February 1993

Intravenous immunoglobulin 10% in children with primary immunodeficiency diseases

scientific article published on 08 August 2018

Intravenous immunoglobulin therapy for active, extensive, and medically refractory idiopathic ulcerative or Crohn's colitis

scientific article published on 01 January 1992

Involvement of wiskott-aldrich syndrome protein in B-cell cytoplasmic tyrosine kinase pathway.

scientific article published on March 1999

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.

scientific article published in December 1994

Josiah F. Wedgwood (1950-2009).

scientific article published on 29 December 2009

Lazy Leukocyte Syndrome-an Enigma Finally Solved?

scientific article published on 25 November 2019

Lentiviral and Murine Retroviral Transduction of T Cells for Expression of Human CD40 Ligand

scientific article published on 01 January 2000

Linkage between the Gene (or Genes) Controlling Synthesis of the Fourth Component of Complement and the Major Histocompatibility Complex ⬇️

scientific article published on March 3, 1977

Long-term low-dose IL-2 enhances immune function in common variable immunodeficiency

scientific article published on 01 August 2001

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

scientific article

Lymphangiomatosis with chylothorax ⬇️

scientific article published on December 1, 1975

Lymphocyte proliferation is associated with gender, caregiving, and psychosocial variables in older adults

scientific article

Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia.

scientific article

Maternal-fetal transmission of SIV in macaques: disseminated adenovirus infection in an offspring with congenital SIV infection

scientific article published in June 1991

Mechanism of immune dysfunction associated with minor antigen graft-vs-host disease in mice

scientific article published on 01 January 1988

Mechanism of the cytostatic action of cortisol and related steroids

scientific article

Metabolism of Thyroxine and Triiodothyronine in Patients with Chronic Granulomatous Disease ⬇️

scientific article published on 01 May 1975

Missense mutations affecting a conserved cysteine pair in the TH domain of Btk ⬇️

scientific article published on August 18, 1997

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

scientific article

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome

scientific article published on 9 September 2004

Molecular biology of the Wiskott-Aldrich syndrome.

scientific article

Monitoring serum IL-18 levels is useful for treatment of a patient with systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome

scientific article published on 13 July 2011

Monoclonal antibody-defined functional epitopes on the adhesion-promoting glycoprotein complex (CDw18) of human neutrophils

scientific article published on 01 April 1986

Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots

scientific article published on 01 April 2020

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

scientific article published in October 1998

Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

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 Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes

scientific article

Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

article

Naked DNA transfer of Factor VIII induced transgene-specific, species-independent immune response in hemophilia A mice

scientific article published in July 2004

Neutralization of different echovirus serotypes by individual lots of intravenous immunoglobulin

scientific article published on 01 February 2011

Neutrophil adhesion in leukocyte adhesion deficiency syndrome type 2

scientific article published on December 1995

New developments in primary immunodeficiencies: Report on the 2006 CIS Primary Immunodeficiency Diseases Consortium Conference, June 1, 2006

scientific article published in December 2006

Normal immunologic response to a neoantigen, bacteriophage phiX-174, in baboons with long-term lymphohematopoietic reconstitution from highly purified CD34+ Lin- allogeneic marrow cells ⬇️

scientific article published on August 15, 1997

Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families

scientific article

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

scientific article

Octagam 5%, an intravenous IgG product, is efficacious and well tolerated in subjects with primary immunodeficiency diseases

scientific article

Ocular involvement in primary immunodeficiency diseases

scientific article

Oligoclonality, impaired class switch and B-cell memory responses in WHIM syndrome

scientific article

Origin of mutations in two families with X-linked chronic granulomatous disease

scientific article

Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity

scientific article

Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand

scientific article

Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome

scientific article

Paternal gonadal mosaicism as cause of a puzzling inheritance pattern of activated PI3-kinase delta syndrome

scientific article published on 26 October 2017

Patients with abnormal IgM levels: assessment, clinical interpretation, and treatment

scientific article published on May 2008

Perinatal infection with human immunodeficiency virus. Specific antibody responses by the neonate

scientific article

Pharmacokinetics of a novel human intravenous immunoglobulin 10% in patients with primary immunodeficiency diseases: Analysis of a phase III, multicentre, prospective, open-label study.

scientific article published on 6 March 2018

Phosphorylation of the oxidase-related 48K phosphoprotein family in the unusual autosomal cytochrome-negative and X-linked cytochrome-positive types of chronic granulomatous disease ⬇️

scientific article published on 01 August 1988

Pillars Article: Isolation of a Novel Gene Mutated in Wiskott-Aldrich Syndrome. Cell. 1994. 78: 635-644

Potentiation of TLR9 responses for human naïve B-cell growth through RP105 signaling.

scientific article published on 4 February 2010

Primary Immune Deficiency Treatment Consortium (PIDTC) report

scientific article published on 15 October 2013

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

scientific article

Primary immunodeficiencies: 2009 update

scientific article

Primary immunodeficiency diseases associated with neurologic manifestations

scientific article published on 26 October 2011

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

scientific article

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

scientific article published in 2014

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

scientific article published on 8 November 2011

Primary immunodeficiency disorders: general classification, new molecular insights, and practical approach to diagnosis and treatment

scientific article published on June 2014

Primary immunodeficiency: looking backwards, looking forwards

scientific article published on April 2004

Prioritization of evidence-based indications for intravenous immunoglobulin

scientific article published on 14 June 2013

Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment

scientific article published in January 2002

Progressive specific immune attrition after primary, secondary and tertiary immunizations with bacteriophage phi X174 in asymptomatic HIV-1 infected patients

scientific article published on March 2000

Pulmonary angiitis with atypical lymphoreticular infiltrates in Wiskott-Aldrich syndrome: possible relationship of lymphomatoid granulomatosis and EBV infection

scientific article published on December 1986

Purine nucleoside phosphorylase deficiency: a molecular model for selective loss of T cell function ⬇️

scientific article published on June 1, 1979

Quantitative analysis of tissue inflammation and responses to treatment in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and review of literature

scientific article published in December 2015

Quantity does not equal quality: Scientific principles cannot be sacrificed

scientific article published on 22 June 2020

R-loops cause genomic instability in T helper lymphocytes from patients with Wiskott-Aldrich syndrome

scientific article published on 14 December 2017

Ralph Josiah Patrick Wedgwood (1924-2017).

scientific article published on 27 December 2017

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots

Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases

scientific article

Rapid tyrosine phosphorylation and activation of Bruton's tyrosine/Tec kinases in platelets induced by collagen binding or CD32 cross-linking

scientific article published on 01 March 2000

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

scientific article

Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy

scientific article published on 9 June 2010

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

scientific article

Regulation of antibody responses: the role of complement and adhesion molecules

scientific article published on 01 June 1993

Regulatory T cells in primary immunodeficiency diseases

scientific article published on December 2007

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

scientific article

Restricted immunoglobulin constant heavy G chain genes in primary immunodeficiencies

scientific article published on 23 May 2008

Retroperitoneal fibromatosis and acquired immunodeficiency syndrome in macaques: clinical and immunologic studies.

scientific article

Retroperitoneal fibromatosis and acquired immunodeficiency syndrome in macaques: epidemiologic studies.

scientific article

Retroviral-mediated gene transfer of the leukocyte integrin CD18 into peripheral blood CD34+ cells derived from a patient with leukocyte adhesion deficiency type 1.

scientific article

Rituximab inhibits the in vivo primary and secondary antibody response to a neoantigen, bacteriophage phiX174.

scientific article published in January 2005

Role of C3 in humoral immunity. Defective antibody production in C3-deficient dogs

scientific article published in March 1988

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

scientific article published on 03 January 2019

Rubella persistence in epidermal keratinocytes and granuloma M2 macrophages in patients with primary immunodeficiencies

scientific article

S.7. IL-17 Signaling Defects in Patients with Candida Albicans and/or Staphylococcus Aureus Infections

scholarly article by Ellen Renner et al published 2009 in Clinical Immunology

STAT3Mutation in the Original Patient with Job's Syndrome

article published in 2007

Safety and efficacy of self-administered subcutaneous immunoglobulin in patients with primary immunodeficiency diseases

scientific article published in May 2006

Second attacks of pneumonia due to Mycoplasma pneumoniae

scientific article

Serum Gm allotype levels in common variable immunodeficiency: preponderance of homozygous G2m(",") on IGHCG2

scientific article published on 01 January 1996

Severe COVID-19 Shares a Common Neutrophil Activation Signature with Other Acute Inflammatory States

scientific article published in March 2022

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene

scientific article

Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease

scientific article published on 13 December 2012

Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development

scholarly article

Soluble CD40L is associated with increased oxidative burst and neutrophil extracellular trap release in Behçet's disease

scientific article published on 19 October 2017

Soluble molecules in intravenous immunoglobulin: benefits and limitations

scientific article published on 09 December 2015

Specific antibody production to a recall or a neoantigen by SCID mice reconstituted with human peripheral blood lymphocytes

scientific article published on 01 October 1993

Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

scientific article

Strain-dependent leakiness of mice with severe combined immune deficiency

scientific article published on 01 May 1993

Structure and function of the Wiskott-Aldrich syndrome protein

scientific article

Structure and function of the gastrointestinal tract in primary immunodeficiency syndromes (IDS) and in granulocyte dysfunction

scientific article published on 01 January 1975

Subcutaneous Immunoglobulin Replacement Therapy with Hizentra® is Safe and Effective in Children Less Than 5 Years of Age.

scientific article

Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease

scientific article

Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease

Successful hematopoietic cell transplantation in a patient with X-linked agammaglobulinemia and acute myeloid leukemia.

scientific article published on 20 April 2015

Successful treatment of echovirus meningoencephalitis and myositis-fasciitis with intravenous immune globulin therapy in a patient with X-linked agammaglobulinemia

scientific article

Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome).

scientific article published in August 2005

Suppression by human FOXP3+ regulatory T cells requires FOXP3-TIP60 interactions.

scientific article

Survival of antigen-specific antibody following administration of intravenous immunoglobulin in patients with primary immunodeficiency diseases

scientific article published on 01 January 1988

Survival of wild polio by a patient with XLA

scientific article published on 01 January 2002

TH17 cells and regulatory T cells in primary immunodeficiency diseases

scientific article published on May 2009

Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome

scientific article

Targeting FcRn for immunomodulation: Benefits, risks, and practical considerations

scientific article published on 01 September 2020

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

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The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

scientific article published on 11 December 2017

The NBT slide test: A simple screening method for detecting chronic granulomatous disease and female carriers ⬇️

scientific article published on July 1, 1973

The Role of CD40 and its Ligand in the Regulation of the Immune Response ⬇️

scientific article published on April 1, 1994

The T-cell-dependent antibody response assay in nonclinical studies of pharmaceuticals and chemicals: study design, data analysis, interpretation

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The Wiskott-Aldrich syndrome

scientific article published on 01 April 2006

The Wiskott-Aldrich syndrome

scientific article published on 01 May 2002

The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene ⬇️

scientific article published on November 15, 1995

The Wiskott-Aldrich syndrome protein regulates nuclear translocation of NFAT2 and NF-kappa B (RelA) independently of its role in filamentous actin polymerization and actin cytoskeletal rearrangement.

scientific article published on March 2005

The Wiskott-Aldrich syndrome.

scientific article

The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets

scientific article published on 01 February 1980

The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.

scientific article published in November 2003

The antibody response to bacteriophage is linked to the lymphopenia gene in congenic BioBreeding rats

scientific journal article

The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

scientific article published on 17 February 2020

The effect of graft-versus-host disease on reconstitution of the immune system following marrow transplantation for aplastic anemia or leukemia

scientific article published on March 1, 1978

The half-lives of IgG subclasses and specific antibodies in patients with primary immunodeficiency who are receiving intravenously administered immunoglobulin

scientific article published in November 1988

The human immunodeficiency virus-infected infant. A diagnostic dilemma

scientific article

The hyper IgM syndrome--an evolving story

scientific article published on 19 August 2004

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

scientific article (publication date: 2001)

The molecular basis and treatment of primary immunodeficiency disorders

scientific article published on December 1997

The molecular basis of X-linked agammaglobulinemia, hyper-IgM syndrome, and severe combined immunodeficiency in humans.

scientific article

The network interplay of interferon and Toll-like receptor signaling pathways in the anti-Candida immune response

scientific article published on 13 October 2021

The pleckstrin homology domain of the Wiskott-Aldrich syndrome protein is involved in the organization of actin cytoskeleton

scientific article

The recognition and classification of immunodeficiency diseases with bacteriophage phiChi 174

scientific article published on January 1, 1975

The role of CD40L (gp39)/CD40 in T/B cell interaction and primary immunodeficiency

scientific article published on 01 October 1994

The role of adhesion molecules in the regulation of antibody responses

scientific article published in October 1993

The role of neutrophil membrane glycoprotein 150 (Gp-150) in neutrophil-mediated endothelial cell injury in vitro.

scientific article published in July 1985

The role of neutrophil membrane glycoprotein GP-150 in neutrophil adherence to endothelium in vitro

The urgent need for integrated science to fight COVID-19 pandemic and beyond

scientific article published on 19 May 2020

Transcellular diapedesis is initiated by invasive podosomes

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Transient blockade of the inducible costimulator pathway generates long-term tolerance to factor VIII after nonviral gene transfer into hemophilia A mice

scientific article published on 23 June 2008

Transient immune deficiency in patients with acute Epstein-Barr virus infection

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Transient immunodeficiency during asymptomatic Epstein-Barr virus infection ⬇️

scientific article published on June 1, 1983

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

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

Tyrosine kinase signaling regulates Wiskott-Aldrich syndrome protein function, which is essential for megakaryocyte differentiation.

scientific article

Ubiquitous high-level gene expression in hematopoietic lineages provides effective lentiviral gene therapy of murine Wiskott-Aldrich syndrome

scientific article

Unimpaired activation of c-Jun NH2-terminal kinase (JNK) 1 upon CD40 stimulation in B cells of patients with X-linked agammaglobulinemia

scientific article published on July 2002

Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families

scientific article published on October 1994

Unrelated umbilical cord stem cell transplantation for X-linked immunodeficiencies

scientific article published in April 2001

WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype

scientific article

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 gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia

scientific article

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

WAVE/Scars in platelets

scientific article

WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).

scholarly article

Wiskott-Aldrich syndrome

scientific article 2001

Wiskott-Aldrich syndrome

scientific article published on 01 January 2008

Wiskott-Aldrich syndrome protein and platelets

scientific article

Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion

scientific article

Wiskott-Aldrich syndrome protein is required for homeostasis and function of invariant NKT cells

scientific article

Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis

scientific article published on 11 January 2007

Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype

scientific article

Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment

scientific article

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

scientific article published on October 1, 2003

X-Linked Agammaglobulinemia

scientific article published in July 2006

X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis

scientific article

X-linked agammaglobulinemia in northern Thailand

scientific article published on 01 March 2006

X-linked agammaglobulinemia. A clinical and molecular analysis

scientific article

X-linked agammaglobulinemia: report on a United States registry of 201 patients

article by Jerry A Winkelstein et al published July 2006 in Medicine

X-linked hyper-IGM syndrome associated to sclerosing cholangitis and gallbladder neoplasm: clinical case

scientific article published in March 2003

X-linked immunodeficiencies

scientific article published in September 2004

X-linked lymphoproliferative syndrome: abnormal antibody responses to bacteriophage phi X 174

scientific article published on 01 January 1983

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

scientific article

X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes

scientific article published on 01 February 2000

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