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List of works by Jennifer M Puck

4 Primary immunodeficiency mutation databases

article

A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID) ⬇️

scientific article published on July 12, 2011

A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures

scientific article published on 01 April 2004

A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency

scientific article published on 07 April 2006

A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70

scientific article

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

scientific article

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

scientific article

A trial of alemtuzumab adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency

scientific article

A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency

scientific article

Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome

scientific article published on 01 July 2002

Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.

scientific article published on 30 September 2016

Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency

scientific article published on 01 January 2004

Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry

scientific article published on 02 September 2020

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

scientific article

An essential role for the Zn2+ transporter ZIP7 in B cell development

scientific article published on 04 February 2019

An update on the hyper-IgE syndromes ⬇️

scientific article published on November 30, 2012

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal transducing death domain: Molecular mechanisms and clinical penetrance

article published in 2011

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

scientific article published on 7 October 2011

Autosomal Dominant Hyper IgE Syndrome

scientific article published on 7 June 2012

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

scientific article published on 19 September 2017

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

scientific article

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

scientific article

B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.

scientific article published on 5 February 2014

Biotechnology. A prudent path forward for genomic engineering and germline gene modification

scientific article

Bone density and fractures in autosomal dominant hyper IgE syndrome

scientific article published on 9 January 2014

Brain abnormalities in patients with hyperimmunoglobulin E syndrome

scientific article published on 16 April 2007

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

Causes of death in hyper-IgE syndrome

scientific article published in March 2007

Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples ⬇️

scientific article published on September 21, 2012

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

scientific article published on 02 August 2019

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation

scientific article published on 14 November 2012

Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation

scientific article

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

scientific article published on 14 July 2008

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

scientific article published on 05 September 2018

Coronin-1A: immune deficiency in humans and mice

scientific article

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

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

scientific article

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

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

scientific article

Dermatitis and the newborn rash of hyper-IgE syndrome

scientific article published in September 2004

Development of population-based newborn screening for severe combined immunodeficiency

scientific article

Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency

scientific article published on 01 June 2020

Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology

scientific article published on 27 September 2019

Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib

scientific article

Drug selection with paclitaxel restores expression of linked IL-2 receptor gamma -chain and multidrug resistance (MDR1) transgenes in canine bone marrow

scientific article

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

scientific article

Early vs. delayed diagnosis of severe combined immunodeficiency: A family perspective survey ⬇️

scientific article published on October 28, 2010

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

scientific article

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

scientific article published on 08 April 2020

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

scientific article

Expert Commentary: Practical Issues in Newborn Screening for Severe Combined Immune Deficiency (SCID) ⬇️

scientific article published on October 20, 2011

Extended Follow-up After Hematopoietic Cell Transplantation for IκBα Deficiency with Disseminated Mycobacterium avium Infection

scientific article published on 13 December 2019

Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.

scientific article

Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS).

scientific article published in February 2006

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

scientific article

Gene therapy for immune disorders: good news tempered by bad news

scientific article

Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency

scientific article published on 16 March 2007

Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome

scientific article published on 31 January 2006

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing

scientific article published on 26 May 2020

Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID

scientific article

HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).

scientific article

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 severe combined immunodeficiency diseases

scientific article published on January 2008

Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival

scientific article published on 01 February 2002

Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome

scientific article published on July 2005

History and current status of newborn screening for severe combined immunodeficiency

scientific article published on 30 April 2015

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

Hyper IgM Syndrome: a Report from the USIDNET Registry

scientific article published on 17 May 2016

Hyper-IgE syndromes

scientific article

Hypo-active variant of IL-2 and associated decreased T cell activation contribute to impaired apoptosis in autoimmune prone MRL mice

scientific article published on March 2002

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

IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.

scientific article

IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.

scientific article published on 17 June 2015

Immune disorders caused by defects in the caspase cascade

scientific article

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

scientific article published on 11 October 2017

Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia

scientific article published on 28 March 2017

Immunodeficiency disorders

scientific article

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

scientific article

Induction of apoptosis and activation of NF-kappaB by CD95 require different signalling thresholds

scientific article

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

scientific article published on 02 October 2020

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism

scientific article

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

scientific article published on 11 December 2017

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles ⬇️

scientific article published on January 29, 2012

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

scientific article

Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1

scientific article published on 01 April 2019

Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency

scientific article published on 9 September 2016

Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels

scientific article published on 01 July 2018

Lessons from the Wiskott-Aldrich syndrome.

scientific article published in October 2006

Long-Term Tolerability, Safety, and Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Human Immunoglobulin for Primary Immunodeficiency

scientific article published on 25 May 2016

Longstanding Eosinophilia in a Case of Late Diagnosis Chronic Granulomatous Disease

scientific article

Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency

scientific article published on 12 March 2019

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B

scientific journal article

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray

scientific article

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

scientific article

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

scholarly article

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

scientific article published on 07 January 2014

Neonatal screening for severe combined immune deficiency

scientific article published on December 2007

Neonatal screening for severe combined immunodeficiency ⬇️

scientific article published on December 1, 2011

Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening

scientific article published on 05 September 2017

Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia ⬇️

scientific article published on December 20, 2012

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017

scientific article published on 01 February 2019

Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management

scientific article published on 21 June 2017

Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned

scientific article published on 01 November 2018

Newborn Sequencing in Genomic Medicine and Public Health

scientific article

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia

scientific article published on 01 January 2019

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years

scientific article published on July 2013

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

scientific article published in August 2014

Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs)

scientific article

Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity

scientific article

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

scientific article published on 12 March 2019

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

scientific article

Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing

scientific article published on January 2016

Perspectives of gene therapy for primary immunodeficiencies

scientific article

Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).

scientific article

Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency

scientific article (publication date: 26 September 2002)

Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome

scientific article published on 28 August 2006

Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency

scientific article published on 09 December 2019

Population-based newborn screening for severe combined immunodeficiency.

scientific article published on January 2008

Population-based newborn screening for severe combined immunodeficiency: steps toward implementation

scientific article published on October 2007

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 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: 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 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: Meeting the challenges

article

Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome

scientific article (publication date: December 2007)

Recombinant human hyaluronidase facilitated subcutaneous immunoglobulin treatment in pediatric patients with primary immunodeficiencies: long-term efficacy, safety and tolerability

scientific article published on 28 July 2016

Recombinant human hyaluronidase-facilitated subcutaneous infusion of human immunoglobulins for primary immunodeficiency ⬇️

scientific article published on July 28, 2012

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

Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects

scientific article published on 18 June 2019

Reply: To PMID 22285280

scientific article published on 12 January 2013

Retroviral transduction of IL2RG into CD34+ cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras

article

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

scientific article published on 28 August 2018

STAT3 mutations in the hyper-IgE syndrome

scientific article

Severe combined immunodeficiencies and related disorders

scientific article

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion

scientific article published on 20 December 2008

Severe combined immunodeficiency: new advances in diagnosis and treatment

scientific article published in January 2007

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

scientific article published on 4 November 2005

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

scientific article

Somatic mutations--not just for cancer anymore

scientific article published on 01 September 2004

Successes and risks of gene therapy in primary immunodeficiencies

scientific article

Successful SCID Gene Therapy in Infant with Disseminated BCG

scientific article published on 16 September 2020

Successful newborn screening for SCID in the Navajo Nation

scientific article published on 8 March 2015

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

scientific article

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

scientific article published on 11 December 2017

The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency

scientific article

The case for newborn screening for severe combined immunodeficiency and related disorders ⬇️

scientific article published on December 1, 2011

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 hyper IgE syndrome and mutations in TYK2

scientific article published on 01 May 2007

The hyper-IgE syndrome is not caused by a microdeletion syndrome

scientific article published on 14 November 2007

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 exome sequencing in newborn screening for inborn errors of metabolism

scientific article published on 10 August 2020

Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development

scientific article

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

scientific article

Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening

scientific article

Treatment of patients with new onset Type 1 diabetes with a single course of anti-CD3 mAb Teplizumab preserves insulin production for up to 5 years

scientific article published on 14 May 2009

USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.

scientific article

USIDNET: a strategy to build a community of clinical immunologists

scientific article

Unknown Cytomegalovirus Serostatus in Primary Immunodeficiency Disorders: A New Category of Transplant Recipients

scientific article published on 10 November 2020

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

scientific article published on 29 April 2016

Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome

scientific article

Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS)

scientific article

Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.

scientific article published on 25 October 2017

X Inactivation in Females with X-Linked Disease

article published in 1998

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