
Professor Emeritus
Pediatrics
Jennifer Puck, MD studies how lymphocytes differentiate from hematopoietic stem cells; she conducts basic research on the genetics of severe combined immunodeficiency (SCID) and uses lentivirus based gene therapy to conduct clinical trials treating patients with X-linked SCID and Artemis deficient SCID.
Publications
Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia.
Frontiers in immunology
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2.
medRxiv : the preprint server for health sciences
A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development.
Nature immunology
High symptom burden in female X-linked chronic granulomatous disease carriers.
Clinical immunology (Orlando, Fla.)
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.
Journal of clinical immunology
Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.
Clinical immunology (Orlando, Fla.)
Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: a PIDTC study.
The Journal of allergy and clinical immunology
Post-Transplant Late Complications Increase Over Time for Patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) Landmark Study.
The Journal of allergy and clinical immunology
Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.
The Journal of allergy and clinical immunology
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.
Lancet (London, England)
Lentiviral Gene Therapy for Artemis-Deficient SCID.
The New England journal of medicine
Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders.
Journal of clinical immunology
The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.
The Journal of allergy and clinical immunology
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.
The Journal of allergy and clinical immunology
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
Journal of clinical immunology
A Spot of Good News: Israeli Experience With SCID Newborn Screening.
The journal of allergy and clinical immunology. In practice
Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry.
Frontiers in immunology
Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation.
The Journal of allergy and clinical immunology
Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency.
Frontiers in immunology
Lentivector cryptic splicing mediates increase in CD34+ clones expressing truncated HMGA2 in human X-linked severe combined immunodeficiency.
Nature communications
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Journal of clinical immunology
Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy.
Journal of clinical immunology
Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry.
Frontiers in immunology
Establishing Newborn Screening for SCID in the USA; Experience in California.
International journal of neonatal screening
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
The Journal of allergy and clinical immunology
Poor T-cell receptor � repertoire diversity early posttransplant for severe combined immunodeficiency predicts failure of immune reconstitution.
The Journal of allergy and clinical immunology
Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID).
Clinical immunology (Orlando, Fla.)
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
The Journal of experimental medicine
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
Journal of clinical immunology
Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers.
Journal of clinical immunology
SCID newborn screening: What we've learned.
The Journal of allergy and clinical immunology
When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review.
Journal of clinical immunology
Unknown cytomegalovirus serostatus in primary immunodeficiency disorders: A new category of transplant recipients.
Transplant infectious disease : an official journal of the Transplantation Society
Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.
Journal of clinical immunology
Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers.
Journal of clinical immunology
Successful SCID gene therapy in infant with disseminated BCG.
The journal of allergy and clinical immunology. In practice
Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry.
Journal of clinical immunology
Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency.
Blood advances
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.
International journal of neonatal screening
Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.
Frontiers in immunology
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
Journal of clinical immunology
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Journal of clinical immunology
Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Journal of clinical immunology
Extended Follow-up After Hematopoietic Cell Transplantation for I?Ba Deficiency with Disseminated Mycobacterium avium Infection.
Journal of clinical immunology
Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency.
Nature biotechnology
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.
The Journal of allergy and clinical immunology
Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.
Journal of clinical immunology
Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects.
The Journal of allergy and clinical immunology
Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1.
The New England journal of medicine
Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.
The journal of allergy and clinical immunology. In practice
An essential role for the Zn2+ transporter ZIP7 in B cell development.
Nature immunology
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Immunological reviews
Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.
Immunology and allergy clinics of North America
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
The Journal of allergy and clinical immunology
The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018).
The Journal of allergy and clinical immunology
Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.
The Hastings Center report
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.
Journal of clinical immunology
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Journal of clinical immunology
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.
Human mutation
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.
The journal of allergy and clinical immunology. In practice
Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening.
Blood advances
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).
The Journal of allergy and clinical immunology
Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management.
International journal of neonatal screening
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 Inter
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID.
Bone marrow transplantation
Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.
Journal of clinical immunology
Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening.
The Journal of allergy and clinical immunology
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
The Journal of experimental medicine
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 Consortium
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
Longstanding Eosinophilia in a Case of Late Diagnosis Chronic Granulomatous Disease.
Journal of clinical immunology
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
The New England journal of medicine
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
The Journal of clinical investigation
Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.
The Journal of allergy and clinical immunology
Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency.
Human gene therapy
Long-Term Tolerability, Safety, and Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Human Immunoglobulin for Primary Immunodeficiency.
Journal of clinical immunology
Hyper IgM Syndrome: a Report from the USIDNET Registry.
Journal of clinical immunology
Primary Immune Deficiency Treatment Consortium (PIDTC) update.
The Journal of allergy and clinical immunology
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.
The Journal of experimental medicine
USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Severe combined immunodeficiencies and related disorders.
Nature reviews. Disease primers
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
Journal of clinical immunology
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
The Journal of clinical investigation
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Journal of clinical immunology
Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity.
Journal of clinical immunology
IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.
Journal of clinical immunology
History and current status of newborn screening for severe combined immunodeficiency.
Seminars in perinatology
Biotechnology. A prudent path forward for genomic engineering and germline gene modification.
Science (New York, N.Y.)
Successful newborn screening for SCID in the Navajo Nation.
Clinical immunology (Orlando, Fla.)
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
Journal of clinical immunology
Coronin-1A: immune deficiency in humans and mice.
Journal of clinical immunology
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Journal of clinical immunology
Transplantation outcomes for severe combined immunodeficiency, 2000-2009.
The New England journal of medicine
A trial of alemtuzumab adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency.
Pediatric transplantation
A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency.
Pediatric transplantation
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Frontiers in immunology
USIDNET: a strategy to build a community of clinical immunologists.
Journal of clinical immunology
Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts.
The Journal of allergy and clinical immunology
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.
The Journal of allergy and clinical immunology
Bone density and fractures in autosomal dominant hyper IgE syndrome.
Journal of clinical immunology
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.
Blood
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
The Journal of allergy and clinical immunology
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.
The Journal of allergy and clinical immunology
Primary Immune Deficiency Treatment Consortium (PIDTC) report.
The Journal of allergy and 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.
Journal of clinical immunology
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.
The Journal of allergy and clinical immunology
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.
Journal of clinical immunology
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.
The Journal of allergy and clinical immunology
Reply: To PMID 22285280.
The Journal of allergy and clinical immunology
Newborn screening for SCID identifies patients with ataxia telangiectasia.
Journal of clinical immunology
An update on the hyper-IgE syndromes.
Arthritis research & therapy
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.
The Journal of allergy and clinical immunology
Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.
Molecular genetics and metabolism
Recombinant human hyaluronidase-facilitated subcutaneous infusion of human immunoglobulins for primary immunodeficiency.
The Journal of allergy and clinical immunology
Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development.
Journal of immunology (Baltimore, Md. : 1950)
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.
The Journal of allergy and clinical immunology
Neonatal screening for severe combined immunodeficiency.
Current opinion in pediatrics
The case for newborn screening for severe combined immunodeficiency and related disorders.
Annals of the New York Academy of Sciences
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Frontiers in immunology
Expert commentary: practical issues in newborn screening for severe combined immune deficiency (SCID).
Journal of clinical immunology
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.
Genetics in medicine : official journal of the American College of Medical Genetics
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID.
Pediatric transplantation
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID).
Molecular genetics and metabolism
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.
Clinical immunology (Orlando, Fla.)
Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.
Clinical immunology (Orlando, Fla.)
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.
The Journal of experimental medicine
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
The Journal of allergy and clinical immunology
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
The Journal of allergy and clinical immunology
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
The Journal of allergy and clinical immunology
Primary immunodeficiencies: 2009 update.
The Journal of allergy and clinical immunology
Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS).
Pediatric blood & cancer
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.
Clinical immunology (Orlando, Fla.)
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
Clinical immunology (Orlando, Fla.)
Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs.
The Journal of allergy and clinical immunology
The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency.
Nature immunology
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.
Genetics in medicine : official journal of the American College of Medical Genetics
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
The Journal of experimental medicine
Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
Population-based newborn screening for severe combined immunodeficiency.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
Neonatal screening for severe combined immune deficiency.
Current opinion in allergy and clinical immunology
Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome.
American journal of hematology
Population-based newborn screening for severe combined immunodeficiency: steps toward implementation.
The Journal of allergy and clinical immunology
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
The Journal of allergy and clinical immunology
Primary immunodeficiency: meeting the challenges.
The Journal of allergy and clinical immunology
STAT3 mutations in the hyper-IgE syndrome.
The New England journal of medicine
IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.
Clinical immunology (Orlando, Fla.)
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib.
BMC medical genetics
NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
Proceedings of the National Academy of Sciences of the United States of America
Causes of death in hyper-IgE syndrome.
The Journal of allergy and clinical immunology
Severe combined immunodeficiency: new advances in diagnosis and treatment.
Immunologic research
Lessons from the Wiskott-Aldrich syndrome.
The New England journal of medicine
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.
Journal of human genetics
Gene therapy for immune disorders: good news tempered by bad news.
The Journal of allergy and clinical immunology
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005.
The Journal of allergy and clinical immunology
Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS).
American journal of hematology
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Human genetics
Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.
Molecular and cellular probes
HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).
Clinical immunology (Orlando, Fla.)
Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome.
The American journal of surgical pathology
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Nature genetics
Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome.
British journal of haematology
Development of population-based newborn screening for severe combined immunodeficiency.
The Journal of allergy and clinical immunology
Hyper-IgE syndromes.
Immunological reviews
Perspectives of gene therapy for primary immunodeficiencies.
Current opinion in allergy and clinical immunology
Induction of apoptosis and activation of NF-kappaB by CD95 require different signalling thresholds.
EMBO reports
Somatic mutations--not just for cancer anymore.
The New England journal of medicine
Dermatitis and the newborn rash of hyper-IgE syndrome.
Archives of dermatology
Primary immunodeficiency diseases: an update.
The Journal of allergy and clinical immunology
A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures.
Journal of the American Academy of Dermatology
Successes and risks of gene therapy in primary immunodeficiencies.
The Journal of allergy and clinical immunology
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.
American journal of medical genetics. Part A
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array.
Genome research
Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency.
Clinical immunology (Orlando, Fla.)
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity.
The Journal of pediatrics
Immune disorders caused by defects in the caspase cascade.
Current allergy and asthma reports
Immunodeficiency disorders.
Hematology. American Society of Hematology. Education Program
Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome.
Clinical immunology (Orlando, Fla.)
Hypo-active variant of IL-2 and associated decreased T cell activation contribute to impaired apoptosis in autoimmune prone MRL mice.
European journal of immunology
Drug selection with paclitaxel restores expression of linked IL-2 receptor gamma -chain and multidrug resistance (MDR1) transgenes in canine bone marrow.
Proceedings of the National Academy of Sciences of the United States of America
TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis.
Clinical immunology (Orlando, Fla.)
An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.
American journal of human genetics
Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model.
Molecular therapy : the journal of the American Society of Gene Therapy
The autoimmune lymphoproliferative syndrome. A disorder of human lymphocyte apoptosis.
Clinical reviews in allergy & immunology
Family pictures: growing up with a brother with X-linked severe combined immunodeficiency.
American journal of medical genetics
Primary immunodeficiency mutation databases.
Advances in genetics
Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency.
American journal of medical genetics
A disease gene for autosomal hyper-IgM syndrome: more genes associated with more immunodeficiencies.
Clinical immunology (Orlando, Fla.)
Genetic testing and screening in pediatric populations.
The Nursing clinics of North America
Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.
Clinical immunology (Orlando, Fla.)
Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome.
Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
Lymphoid development and function in X-linked severe combined immunodeficiency mice after stem cell gene therapy.
Molecular therapy : the journal of the American Society of Gene Therapy
Autoimmune lymphoproliferative syndrome, a disorder of apoptosis.
Current opinion in pediatrics
Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome.
Clinical immunology (Orlando, Fla.)
Genetic linkage of hyper-IgE syndrome to chromosome 4.
American journal of human genetics
Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.
Genetics in medicine : official journal of the American College of Medical Genetics
Severe combined immunodeficiency in an infant with multiple congenital abnormalities.
The Journal of allergy and clinical immunology
Canine lymphocyte expression of retrovirally transferred human common gamma chain.
Annals of the New York Academy of Sciences
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.
Proceedings of the National Academy of Sciences of the United States of America
An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome.
Annals of internal medicine
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
American journal of human genetics
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.
The New England journal of medicine
Pathological findings in human autoimmune lymphoproliferative syndrome.
The American journal of pathology
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.
The Journal of pediatrics
The timing of twinning: more insights from X inactivation.
American journal of human genetics
The interleukin-4 receptor variant Q576R in hyper-IgE syndrome.
The New England journal of medicine
X inactivation in females with X-linked disease.
The New England journal of medicine
The Canale-Smith syndrome.
The New England journal of medicine
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.
Human genetics
Interleukin-4 signaling in B lymphocytes from patients with X-linked severe combined immunodeficiency.
The Journal of biological chemistry
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.
The Journal of pediatrics
Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors.
Experimental hematology
Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity.
Journal of immunology (Baltimore, Md. : 1950)
ALPS: an autoimmune human lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.
Seminars in immunology
Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.
Journal of clinical immunology
Genomic structure and mapping of human FADD, an intracellular mediator of lymphocyte apoptosis.
Journal of immunology (Baltimore, Md. : 1950)
Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow.
The New England journal of medicine
IL2RGbase: a database of gamma c-chain defects causing human X-SCID.
Immunology today
Interleukin-4-specific signal transduction events are driven by homotypic interactions of the interleukin-4 receptor alpha subunit.
The EMBO journal
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.
Nature genetics
Gene localization and syntenic mapping by FISH in the dog.
Cytogenetics and cell genetics
Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.
Human molecular genetics
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
American journal of human genetics
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
The Journal of clinical investigation
Molecular and genetic basis of X-linked immunodeficiency disorders.
Journal of clinical immunology
Seven chromosome 22 STR polymorphisms.
Human molecular genetics
Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34.
Cytogenetics and cell genetics
Molecular basis for three X-linked immune disorders.
Human molecular genetics
Painful discoloration of the fingernails in a 15-year-old boy.
The Pediatric infectious disease journal
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.
Human molecular genetics
Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13.
American journal of human genetics
T-cell-depleted maternal bone marrow transplantation for siblings with X-linked severe combined immunodeficiency.
The Journal of pediatrics
Catheter-related Fusarium solani fungemia and pulmonary infection in a patient with leukemia in remission.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
X-linked immunodeficiencies.
Advances in human genetics
Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency.
American journal of human genetics
Dinucleotide repeat polymorphism at the DXS441 locus.
Nucleic acids research
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
American journal of human genetics
Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency.
The Journal of pediatrics
A high-frequency RFLP at the human TFE3 locus on the X chromosome.
Nucleic acids research
An adenovirus recombinant that expresses the human cytomegalovirus major envelope glycoprotein and induces neutralizing antibodies.
The Journal of infectious diseases
Clonal analysis of solitary follicular nodules in the thyroid.
The American journal of pathology
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome.
The Journal of pediatrics
X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome.
Clinical immunology and immunopathology
X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings.
The Journal of clinical investigation
Prenatal test for X-linked severe combined immunodeficiency by analysis of maternal X-chromosome inactivation and linkage analysis.
The New England journal of medicine
RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP.
Nucleic acids research
X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis.
American journal of human genetics
Evaluation of the stability and sporicidal activity of three glutaraldehyde solutions during hospital continuous use.
Journal de pharmacie de Belgique
Report of the committee on the genetic constitution of the X chromosome.
Cytogenetics and cell genetics
Definition of the gene loci in X-linked immunodeficiencies.
Immunological investigations
Carrier detection in typical and atypical X-linked agammaglobulinemia.
The Journal of pediatrics
Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency.
Proceedings of the National Academy of Sciences of the United States of America
Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.
The Journal of clinical investigation
Branhamella catarrhalis sepsis.
Pediatric infectious disease
Disproportionate expansion of a minor T cell subset in patients with lymphadenopathy syndrome and acquired immunodeficiency syndrome.
The Journal of infectious diseases
Gene for alpha-chain of human T-cell receptor: location on chromosome 14 region involved in T-cell neoplasms.
Science (New York, N.Y.)
In vitro human lymphocyte responses to Cryptococcus neoformans. Evidence for primary and secondary responses in normals and infected subjects.
Journal of immunology (Baltimore, Md. : 1950)
Regulatory interactions governing the proliferation of T cell subsets stimulated with pokeweed mitogen.
Journal of immunology (Baltimore, Md. : 1950)
Lymphocyte subsets in patients with acquired immunodeficiency syndrome (AIDS), aids-related complex (ARC), and acute viral infections.
Transactions of the Association of American Physicians
Antigen presentation to human T lymphocytes. II. Requirements for Mac-120+ macrophages and responsiveness to interleukin 2.
Cellular immunology
Bromodeoxyuridine and light treatment enhances responsiveness of pokeweed mitogen-stimulated human lymphocytes to autologous and allogeneic determinants.
Cellular immunology
Antigen presentation to human T lymphocytes. I. Different requirements for stimulation by hapten-modified cells vs. cell sonicates.
The Journal of experimental medicine
Computerized tomography in brain biopsy-proven herpes simplex encephalitis. Early normal results.
Archives of neurology
Protection of infants from infection with influenza A virus by transplacentally acquired antibody.
The Journal of infectious diseases
Microneutralization test for influenza A and B and parainfluenza 1 and 2 viruses that uses continuous cell lines and fresh serum enhancement.
Journal of clinical microbiology
Role of Ia-positive cells in induction of secondary human immune responses to haptens in vitro.
The Journal of experimental medicine
Recurrence risks for retinoblastoma: a model for autosomal dominant disorders with complex inheritance.
Journal of pediatric ophthalmology