J. Puck

L. Notarangelo, J. Puck, A. Gennery, 2017, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

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

J. Puck, F. Bonilla, M. Butte, 2007, Clinical immunology.

X-linked immunodeficiencies.

J. Puck, 1993, Advances in human genetics.

X Chromosome Inactivation Analysis: A New Tool to Examine X-Linked Immunodeficiencies

J. Puck, M. Conley, 1989 .

Definition of the gene loci in X-linked immunodeficiencies.

J. Puck, M. Conley, M. E. Conley, 1988, Immunological investigations.

Hyper IgM Syndrome: a Report from the USIDNET Registry

R. Geha, C. Cunningham-Rundles, H. Ochs, 2016, Journal of Clinical Immunology.

Inherited Human Caspase 10 Mutations Underlie Defective Lymphocyte and Dendritic Cell Apoptosis in Autoimmune Lymphoproliferative Syndrome Type II

J. Puck, A. Lobito, F. Chan, 1999, Cell.

X inactivation in females with X-linked disease.

H. Willard, J. Puck, 1998, The New England journal of medicine.

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

B. Hartmann, C. Klein, J. Puck, 2013, The Journal of allergy and clinical immunology.

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

Ivan K. Chinn, J. Lupski, S. Grant, 2021, The Journal of experimental medicine.

The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22.

J. Puck, T. Kadesch, P. Henthorn, 1991, Genomics.

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

R. Srinivasan, S. Brenner, J. Puck, 2016, The Journal of experimental medicine.

Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors.

J. Puck, D. Orlic, D. Lee, 1997, Experimental hematology.

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

T. Chatila, S. Holland, C. Klein, 2009, The Journal of allergy and clinical immunology.

A disease gene for autosomal hyper-IgM syndrome: more genes associated with more immunodeficiencies.

J. Puck, 2000, Clinical immunology.

Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry

J. Puck, K. Sullivan, R. Fuleihan, 2022, Frontiers in Immunology.

An Inherited Disorder of Lymphocyte Apoptosis: The Autoimmune Lymphoproliferative Syndrome

J. Puck, M. Lenardo, W. Strober, 1999, Annals of Internal Medicine.

Human Genomics in Immunology

R. Nussbaum, J. Puck, 2019, Clinical Immunology.

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, and Immunology.

Ivan K. Chinn, J. Orange, J. Walter, 2019, The Journal of allergy and clinical immunology.

Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation

R. Srinivasan, S. Brenner, J. Puck, 2015, Journal of Clinical Immunology.

Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.

J. Puck, T. Fleisher, A. Hsu, 2000, Clinical immunology.

Newborn Sequencing in Genomic Medicine and Public Health

Tiina K. Urv, N. Risch, P. Kwok, 2017, Pediatrics.

Retroviral marking of canine bone marrow: long-term, high-level expression of human interleukin-2 receptor common gamma chain in canine lymphocytes.

J. Puck, D. Bodine, M. Haskins, 1998, Blood.

Gene localization and syntenic mapping by FISH in the dog.

A. Dutra, J. Puck, E. Mignot, 1996, Cytogenetics and cell genetics.

Immune disorders caused by defects in the caspase cascade

J. Puck, Shigui Zhu, 2003, Current allergy and asthma reports.

Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID).

J. Puck, M. Cowan, C. Scalchunes, 2021, Clinical immunology.

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

L. Notarangelo, J. Puck, K. Sullivan, 2017, Blood.

Canine Lymphocyte Expression of Retrovirally Transferred Human Common Gamma Chain

J. Puck, D. Bodine, M. Haskins, 1999, Annals of the New York Academy of Sciences.

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

J. Puck, M. Conley, P. Henthorn, 1997, Blood.

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

J. Puck, R. Hirschhorn, D. Yang, 1996, Nature Genetics.

IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease.

J. Puck, P. Felsburg, P. Henthorn, 1994, Genomics.

Outcomes Following Treatment for Adenosine Deaminase Deficient Severe Combined Immunodeficiency: A Report from the PIDTC.

L. Notarangelo, J. Puck, T. Torgerson, 2022, Blood.

Early Outcome of a Phase I/II Clinical Trial (NCT03538899) of Gene-Corrected Autologous CD34+ Hematopoietic Cells and Low-Exposure Busulfan in Newly Diagnosed Patients with Artemis-Deficient Severe Combined Immunodeficiency (ART-SCID)

J. Puck, R. McIvor, H. Malech, 2020 .

IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

M. Raffeld, S. Pittaluga, S. Holland, 2015, Journal of Clinical Immunology.

Severe Combined Immunodeficiency – from Discovery to Newborn Screening

J. Puck, R. Currier, 2014 .

Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing

J. Puck, B. Koenig, Charlotte E. Young, 2016, Pediatrics.

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

J. Puck, K. Sullivan, S. Jyonouchi, 2017, Journal of Clinical Immunology.

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

L. Notarangelo, J. Puck, K. Sullivan, 2018, Blood.

Perspectives of gene therapy for primary immunodeficiencies

J. Puck, J. Chinen, 2004, Current opinion in allergy and clinical immunology.

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

J. Puck, J. Cyster, R. Sorensen, 2009, Clinical immunology.

Perturbation robustness analyses reveal important parameters in variant interpretation pipelines

Pui-Yan Kwok, Steven E. Brenner, Rajgopal Srinivasan, 2020, bioRxiv.

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

C. Cunningham-Rundles, J. Puck, K. Sullivan, 2020, Journal of Clinical Immunology.

Newborn Screening for Severe Combined Immunodeficiency

J. Puck, A. Kwan, 2015, Current Pediatrics Reports.

Successes and risks of gene therapy in primary immunodeficiencies.

J. Puck, J. Chinen, 2004, The Journal of allergy and clinical immunology.

Severe combined immunodeficiency in an infant with multiple congenital abnormalities.

J. Puck, R. Nelson, N. Day, 1999, The Journal of allergy and clinical immunology.

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

J. B. Oliveira, E. Jaffe, S. Pittaluga, 2010, Blood.

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

L. Notarangelo, J. Walter, J. Puck, 2018, Blood.

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

J. Puck, I. Tezcan, M. Roncarolo, 2016, Blood.

The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.

A. Marx, E. Jaffe, J. Puck, 2001, Blood.

Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.

M. Peter, S. Fesik, J. Puck, 1999, Proceedings of the National Academy of Sciences of the United States of America.

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

A. Schäffer, H. Cao, J. Puck, 2017, The Journal of allergy and clinical immunology.

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

J. Casanova, J. Franco, A. Bousfiha, 2017, Journal of Clinical Immunology.

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

L. Notarangelo, J. Puck, S. Pai, 2013, Journal of Clinical Immunology.

Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression.

E. Jaffe, J. Teruya-Feldstein, M. Raffeld, 2001, Blood.

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

J. Puck, T. Fleisher, A. Hsu, 1999, American journal of human genetics.

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

L. Notarangelo, J. Puck, K. Sullivan, 2008, The Journal of allergy and clinical immunology.

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

L. Notarangelo, J. Puck, K. Sullivan, 2014, The New England journal of medicine.

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

L. Notarangelo, J. Walter, J. Puck, 2020, Frontiers in Immunology.

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

J. Puck, P. Veys, C. Dvorak, 2014, Pediatric transplantation.

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

J. Puck, Joie Davis, A. Hsu, 2011, Genetics in Medicine.

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

J. B. Oliveira, R. Gelman, L. Notarangelo, 2015, The Journal of clinical investigation.

Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID

J. Puck, M. Dorsey, C. Dvorak, 2017, Bone Marrow Transplantation.

Lessons from the Wiskott-Aldrich syndrome.

J. Puck, F. Candotti, 2006, The New England journal of medicine.

Autosomal Dominant Hyper IgE Syndrome

S. Holland, J. Puck, Joie Davis, 2012, Encyclopedia of Medical Immunology.

Newborn screening for severe combined immunodeficiency and T‐cell lymphopenia

J. Puck, 2018, Immunological reviews.

The hyper IgE syndrome and mutations in TYK2.

A. Schäffer, A. Plebani, S. Holland, 2007, Immunity.

Immune deficiencies , infection , and systemic immune disorders Mutations in STAT 3 and diagnostic guidelines for hyper-IgE syndrome

A. Schäffer, A. Plebani, C. Pignata, 2010 .

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

L. Notarangelo, J. Puck, T. Torgerson, 2019, Journal of Clinical Immunology.

Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases.

A. Fischer, J. Puck, B. Neven, 2008, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions

L. Notarangelo, J. Puck, K. Sullivan, 2022, The Journal of allergy and clinical immunology.

The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions

L. Notarangelo, J. Puck, S. Pai, 2022, The Journal of allergy and clinical immunology.

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

L. Notarangelo, J. Puck, T. Torgerson, 2020, Journal of Clinical Immunology.

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

L. Notarangelo, J. Puck, T. Torgerson, 2020, Journal of Clinical Immunology.

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 International Conference on Late Effects after Ped

L. Notarangelo, J. Puck, A. Gennery, 2017, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

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

Kee Chan, J. Puck, S. Pai, 2011, Molecular genetics and metabolism.

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

L. Notarangelo, J. Walter, R. Geha, 2019, The journal of allergy and clinical immunology. In practice.

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

J. B. Oliveira, R. Gelman, L. Notarangelo, 2016, The Journal of clinical investigation.

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

F. Alt, L. Notarangelo, J. Walter, 2010, The Journal of experimental medicine.

Carrier detection in typical and atypical X-linked agammaglobulinemia.

J. Puck, M. Conley, 1988 .

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

J. Puck, R. Siegel, M. Lenardo, 2007, BMC Medical Genetics.

Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome.

J. Puck, T. Fleisher, R. Siegel, 2001, Blood.

Immunodeficiencies: Injecting some safety into SCID gene therapy?

J. Puck, F. Candotti, C. Roifman, 2006, Gene Therapy.

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

J. Puck, Alice Y. Chan, M. Boyle, 2011, Clinical immunology.

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

L. Zon, Elliott J. Hagedorn, L. Notarangelo, 2017, The Journal of experimental medicine.

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

J. Warrington, J. Puck, A. Hsu, 2008, Genetics in Medicine.

Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13.

J. Puck, M. Conley, L. C. Bailey, 1993, American journal of human genetics.

A microsatellite-based multipoint index map of human chromosome 22.

K. Buetow, D. Duggan, R. Spielman, 1993, Genomics.

Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment

S. Holland, J. Puck, Joie Davis, 2004, American journal of medical genetics. Part A.

When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review

J. Walter, J. Puck, M. Dorsey, 2021, Journal of Clinical Immunology.

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

J. Puck, D. Patel, L. Myers, 2013 .

Immunodeficiency disorders.

J. Puck, L. Lanier, M. Cooper, 2003, Hematology. American Society of Hematology. Education Program.

Lentiviral Gene Therapy for Artemis-Deficient SCID.

J. Puck, J. Hilton, H. Malech, 2022, The New England journal of medicine.

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

J. Puck, James N. Huang, M. Dorsey, 2019, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

A Spot of Good News: Israeli Experience With SCID Newborn Screening.

J. Puck, 2022, The journal of allergy and clinical immunology. In practice.

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

J. Casanova, J. Franco, A. Bousfiha, 2015, Journal of Clinical Immunology.

Plasma cell deficiency in humans with heterozygous mutations in SEC61A1

A. Schäffer, H. Cao, J. Puck, 2017 .

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

Aashish N. Adhikari, R. Srinivasan, S. Brenner, 2016, The New England journal of medicine.

A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside

J. Casanova, L. Notarangelo, R. Geha, 2013, Journal of Clinical Immunology.

Newborn Screening for SCID and T Cell Lymphopenia in California: Results of the First Two Years

Rajni, J. Puck, J. Church, 2013 .

Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia

R. Srinivasan, S. Brenner, J. Puck, 2012, Journal of Clinical Immunology.

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

J. Puck, 2018, The Hastings Center report.

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

J. Puck, M. Dorsey, C. Dvorak, 2017, Blood advances.

Genetic Principles and Technologies in the Study of Immune Disorders

R. Nussbaum, J. Puck, 2013 .

Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry

J. Puck, K. Sullivan, D. Dai, 2022, Frontiers in Immunology.

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

Aashish N. Adhikari, R. Srinivasan, P. Kwok, 2020, International journal of neonatal screening.

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

P. Kwok, M. Kvale, L. Bassaganyas, 2018, Human mutation.

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

J. Puck, T. Fleisher, A. Hsu, 2006, Molecular and cellular probes.

Induction of apoptosis and activation of NF‐κB by CD95 require different signalling thresholds

M. Peter, J. Puck, M. Lenardo, 2004, EMBO reports.

Report of the committee on the genetic constitution of the X chromosome (Part 3 of 3)

R. Nussbaum, H. Willard, K. Davies, 1989 .

Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex

J. Coligan, J. Woody, J. Puck, 1986, Nature.

Molecular and genetic basis of X-linked immunodeficiency disorders

J. Puck, 1994, Journal of Clinical Immunology.

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

J. Puck, K. Simon-Stoos, Youngnim Choi, 2002, European journal of immunology.

Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome.

J. Puck, D. Kleiner, J. Erikson, 1999, Clinical immunology.

Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency.

J. Puck, A. Burks, M. Conley, 1991, The Journal of pediatrics.

Unknown cytomegalovirus serostatus in primary immunodeficiency disorders: A new category of transplant recipients

J. Puck, M. Dorsey, C. Dvorak, 2020, Transplant infectious disease : an official journal of the Transplantation Society.

Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation

A. Dutra, S. Holland, J. Puck, 1999, Genetics in Medicine.

Disproportionate expansion of a minor T cell subset in patients with lymphadenopathy syndrome and acquired immunodeficiency syndrome.

J. Puck, G. Babcock, D. Lewis, 1985, The Journal of infectious diseases.

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

J. Franco, J. Puck, S. Ehl, 2007, Immunogenetics.

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

J. Orange, L. Notarangelo, C. Cunningham-Rundles, 2014, The Journal of allergy and clinical immunology.

Resolution of CGD Related Colitis after Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Chronic Granulomatous Disease—Early Results From the 6903 Study of the Primary Immune Deficiency Treatment Consortium (PIDTC)

L. Notarangelo, J. Puck, K. Sullivan, 2018 .

Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis--CT and US features.

E. Jaffe, A. Dwyer, J. Puck, 1999, Radiology.

TREC Newborn Screening Can Identify Patients with Leaky SCID and May Improve Outcome

J. Puck, Alice Y. Chan, M. Cowan, 2013 .

Carrier detection in typical and X-linked agammaglobulinemia atypical

J. Puck, M. Conley, 1987 .

Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome.

S. Holland, J. Puck, A. Freeman, 2007, Oral diseases.

Genetic testing and screening in pediatric populations.

J. Puck, D. Krasnewich, J. Davis, 2000, The Nursing clinics of North America.

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

J. Puck, R. Vibhakar, Z. Ballas, 2002, Clinical immunology.

Prenatal Diagnosis and Genetic Analysis of X-Linked Immunodeficiency Disorders

J. Puck, 1993, Pediatric Research.

Severe combined immunodeficiency: new advances in diagnosis and treatment

J. Puck, 2007, Immunologic research.

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

S. Holland, J. Puck, M. Turner, 2004, Journal of the American Academy of Dermatology.

Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia

R. Srinivasan, S. Brenner, J. Puck, 2012, Journal of Clinical Immunology.

USIDNET: A Strategy to Build a Community of Clinical Immunologists

L. Notarangelo, C. Cunningham-Rundles, J. Puck, 2014, Journal of Clinical Immunology.

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

J. Puck, M. Dorsey, 2019, Immunology and allergy clinics of North America.

Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)

R. Srinivasan, S. Brenner, J. Puck, 2015, Journal of Clinical Immunology.

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

L. Notarangelo, J. Puck, T. Torgerson, 2019, The Journal of allergy and clinical immunology.

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

J. Puck, A. Hsu, L. Maródi, 2006, Journal of Human Genetics.

A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside

A. Fischer, J. Casanova, L. Notarangelo, 2013, Journal of Clinical Immunology.

DNA from dried blood spots yields high quality sequences for exome analysis

Aashish N. Adhikari, R. Srinivasan, P. Kwok, 2020, bioRxiv.

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.

J. Puck, T. Fleisher, M. Lenardo, 1998, The Journal of pediatrics.

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

J. Casanova, J. Franco, A. Bousfiha, 2020, Journal of Clinical Immunology.

Coronin-1A: Immune Deficiency in Humans and Mice

Nicoleta C. Arva, J. Puck, N. Arva, 2015, Journal of Clinical Immunology.

Complementation of a pathogenic IFNGR 2 misfolding mutation with modifi ers of N-glycosylation

J. Casanova, C. Picard, J. Puck, 2008 .

Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders

J. Puck, M. Dorsey, C. Dvorak, 2022, Journal of Clinical Immunology.

IL2RGbase: a database of gamma c-chain defects causing human X-SCID.

J. Puck, 1996, Immunology today.

Recurrence risks for retinoblastoma: a model for autosomal dominant disorders with complex inheritance.

J. Puck, R. Nussbaum, 1976, Journal of pediatric ophthalmology.

Bone Density and Fractures in Autosomal Dominant Hyper IgE Syndrome

S. Holland, J. Puck, Joie Davis, 2014, Journal of Clinical Immunology.

Primary immunodeficiency diseases : a molecular and cellular approach

H. Ochs, J. Puck, C. I. Smith, 2014 .

HUMAN SEVERE COMBINED IMMUNODEFICIENCY (SCID): GENETIC, PHENOTYPIC AND FUNCTIONAL DIVERSITY IN 95 INFANTS. • 41

J. Puck, M. Markert, R. Buckley, 1996, Pediatric Research.

Abstracts of workshop presentations pp. 1075-1091

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34.

R. Nussbaum, A. Dutra, P. Jänne, 1994, Cytogenetics and Cell Genetics.

Mutation Analysis of IL 2 RG in Human X-Linked Severe Combined Immunodeficiency

J. Puck, M. Conley, P. Henthorn, 1997 .

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

J. Casanova, G. Rutter, M. van der Burg, 2019, Nature Immunology.

Protection of infants from infection with influenza A virus by transplacentally acquired antibody.

J. Puck, W. P. Glezen, A. Frank, 1980, The Journal of infectious diseases.

Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

Michael S. Watson, Piero Rinaldo, B. Yawn, 2006, Pediatrics.

Early Hematopoietic Cell Transplant (HCT) Outcomes of Children with Severe Combined Immunodeficiency Disease (SCID): The First Seventy Four Patients of the Primary Immune Deficiency Treatment Consortium (PIDTC) Prospective Study 6901

L. Notarangelo, J. Puck, K. Sullivan, 2015 .

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium

L. Notarangelo, J. Puck, T. Torgerson, 2023, The Lancet.

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

J. Puck, M. Dorsey, 2017, International journal of neonatal screening.

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

M. Watson, L. Notarangelo, J. Walter, 2014, JAMA.

Abstracts of workshop presentations pp. 1057-1074

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Immune deficiencies, infection, and systemic immune disordersNewborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years

J. Puck, M. Porteus, A. Kwan, 2013 .

Primary immunodeficiency diseases: an update.

J. Casanova, L. Notarangelo, R. Geha, 2004, The Journal of allergy and clinical immunology.

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

J. Casanova, L. Notarangelo, R. Geha, 2014, Front. Immunol..

Abstracts of workshop presentations pp. 1023-1039

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency.

A. Dutra, J. Puck, P. Felsburg, 1994, Genomics.

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

J. Puck, R. Siegel, M. Lenardo, 2007, BMC Medical Genetics.

Genomic structure and mapping of human FADD, an intracellular mediator of lymphocyte apoptosis.

A. Dutra, J. Puck, S. Chandrasekharappa, 1996, Journal of Immunology.

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

J. Casanova, C. Picard, J. Puck, 2008, The Journal of experimental medicine.

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

L. Notarangelo, J. Puck, K. Sullivan, 2014, The New England journal of medicine.

Primary Immune Deficiency Treatment Consortium (PIDTC) report.

M. van der Burg, L. Notarangelo, H. Bobby Gaspar, 2014, The Journal of allergy and clinical immunology.

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

F. Alt, M. Vihinen, L. Notarangelo, 2013, The Journal of allergy and clinical immunology.

The actin regulator coronin-1A is mutated in a thymic egress deficient mouse strain and in a T−B+NK+ SCID patient

J. Puck, S. Watson, J. Cyster, 2008, Nature Immunology.

Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1.

D. Housman, S. Antonarakis, M. Karayiorgou, 1994, American journal of medical genetics.

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

Jing Huang, R. Mei, K. W. Jones, 2004, Genome research.

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

J. Puck, N. Mahlaoui, A. Alcaïs, 2008, The Journal of experimental medicine.

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome (vol 124, pg 1289, 2009)

T. Chatila, J. Puck, S. Ehl, 2010 .

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

J. Puck, Sudhir Gupta, R. Wasserman, 2016, Immunotherapy.

Establishing Newborn Screening for SCID in the USA; Experience in California

J. Puck, A. Gennery, 2021, International Journal of Neonatal Screening.

COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report

G. Giardino, C. Pignata, J. Puck, 2024, Journal of clinical immunology.

Longstanding Eosinophilia in a Case of Late Diagnosis Chronic Granulomatous Disease

J. Puck, M. Dorsey, K. Patel, 2016, Journal of Clinical Immunology.

Integrome signatures of lentiviral gene therapy for SCID-X1 patients

J. Puck, Hao Shi, B. Ju, 2023, Science advances.

Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.

C. Deming, S. Conlan, J. Segre, 2023, The Journal of allergy and clinical immunology.

Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.

J. Puck, T. Torgerson, S. Pai, 2024, Clinical immunology.

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.

T. Chatila, J. Puck, M. Dasouki, 2011, Clinical immunology.

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

L. Notarangelo, J. Walter, R. Geha, 2019, The journal of allergy and clinical immunology. In practice.

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

J. B. Oliveira, R. Gelman, L. Notarangelo, 2016, The Journal of clinical investigation.

Genotype, Oxidase Status, and Preceding Infection or Autoinflammation Do Not Affect Allogeneic HCT Outcomes for CGD.

L. Notarangelo, J. Puck, T. Torgerson, 2023, Blood.

Interleukin-4 Signaling in B Lymphocytes from Patients with X-linked Severe Combined Immunodeficiency*

J. Johnston, N. Taylor, J. Puck, 1997, The Journal of Biological Chemistry.

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.

C. Cunningham-Rundles, S. Holland, H. Ochs, 2017, The journal of allergy and clinical immunology. In practice.