Dr. Puck earned her undergraduate and medical degrees at Harvard University and Harvard Medical School, after which she completed clinical and research training in pediatrics, infectious diseases and immunology at Washington University in St. Louis, Missouri, and Baylor College of Medicine in Houston, Texas. After serving on the faculties of the University of Pennsylvania in Philadelphia and the National Human Genome Research Institute, NIH, in Bethesda, Maryland, she joined UCSF in 2006 as Professor of Pediatrics. In addition to caring for patients as an immunologist and teaching biomedical trainees at all levels, Dr. Puck has a basic and translational research program that focuses on human immune disorders as well as mouse models of lymphocyte development. Dr. Puck has used genetic and genomic technology as well as cellular immunology to study the basis of impaired lymphocyte development as well as immune dysregulation. She has published over 215 peer reviewed research papers in addition to over 120 chapters and reviews; she is an editor and contributor to Primary Immunodeficiencies: A Molecular and Genetic Approach, 3rd 2014, and Clinical Immunology, Principles and Practice, 6th ed, 2021.
Noting the advantages in survival and outcomes for infants with severe combined immunodeficiency (SCID) after diagnosis and treatment early in life, Dr. Puck conceived and developed a newborn screening test that uses the universally collected dried blood spots to detect SCID. DNA extracted from the blood spots is assayed by PCR to quantitate T cell receptor excision circles (TRECs), a biomarker for the generation of a normal, diverse repertoire of T cells. Absent or low TRECs suggest SCID. This testing, now adopted in newborn screening panels throughout the USA and a growing number of countries, allows infants affected with SCID and other conditions with insufficient T cells to be detected early and treated.
Dr. Puck's translational research also includes advances in therapies for individuals with SCID. She and Dr. Mort Cowan lead the first in human gene therapy clinical trial for SCID due to defects of the DNA repair gene Artemis (DCLRE1C).
Dr. Puck directs the UCSF Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies. She serves on the Medical Advisory Committee of the Immune Deficiency Foundation, the Committee on Primary Immunodeficiency Disease of the International Union of Immunological Societies. She is PI of the NIH-funded Primary Immune Deficiency Treatment Consortium (PIDTC), part of the Rare Disease Clinical Research Network. She has been elected to the American Society of Clinical Investigation (ASCI), Society for Pediatric Research (SPR), Association of American Physicians (AAP), American Pediatric Society (APS) and National Academy of Medicine. She received the Abbot Award in Clinical and Diagnostic Immunology from the American Society of Microbiology in 2013, the Colonel Harlan Sanders Award for Lifetime Achievement in Genetics from the March of Dimes in 2014, and the Boyle Achievement Award for service to primary immunodeficiencies from the Immune Deficiency Foundation in 2017.
Publications
Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia.
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2.
A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development.
High symptom burden in female X-linked chronic granulomatous disease carriers.
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.
Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.
Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study.
Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.
Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.
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.
Lentiviral Gene Therapy for Artemis-Deficient SCID.
Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders.
The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
A Spot of Good News: Israeli Experience With SCID Newborn Screening.
Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry.
Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation.
Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency.
Lentivector cryptic splicing mediates increase in CD34+ clones expressing truncated HMGA2 in human X-linked severe combined immunodeficiency.
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy.
Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry.
Establishing Newborn Screening for SCID in the USA; Experience in California.
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
Poor T-cell receptor β repertoire diversity early posttransplant for severe combined immunodeficiency predicts failure of immune reconstitution.
Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID).
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers.
SCID newborn screening: What we've learned.
When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review.
Unknown cytomegalovirus serostatus in primary immunodeficiency disorders: A new category of transplant recipients.
Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.
Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers.
Successful SCID gene therapy in infant with disseminated BCG.
Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry.
Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency.
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.
Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Extended Follow-up After Hematopoietic Cell Transplantation for IκBα Deficiency with Disseminated Mycobacterium avium Infection.
Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency.
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.
Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.
Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects.
Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1.
Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency.
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.
An essential role for the Zn2+ transporter ZIP7 in B cell development.
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018).
Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.
Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening.
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).
Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management.
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
Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID.
Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.
Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening.
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
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
Longstanding Eosinophilia in a Case of Late Diagnosis Chronic Granulomatous Disease.
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.
Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency.
Long-Term Tolerability, Safety, and Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Human Immunoglobulin for Primary Immunodeficiency.
Hyper IgM Syndrome: a Report from the USIDNET Registry.
Primary Immune Deficiency Treatment Consortium (PIDTC) update.
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.
USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.
Severe combined immunodeficiencies and related disorders.
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity.
IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.
History and current status of newborn screening for severe combined immunodeficiency.
Biotechnology. A prudent path forward for genomic engineering and germline gene modification.
Successful newborn screening for SCID in the Navajo Nation.
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
Coronin-1A: immune deficiency in humans and mice.
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Transplantation outcomes for severe combined immunodeficiency, 2000-2009.
A trial of alemtuzumab adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency.
A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency.
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
USIDNET: a strategy to build a community of clinical immunologists.
Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts.
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.
Bone density and fractures in autosomal dominant hyper IgE syndrome.
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.
Primary Immune Deficiency Treatment Consortium (PIDTC) report.
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.
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.
Reply: To PMID 22285280.
Newborn screening for SCID identifies patients with ataxia telangiectasia.
An update on the hyper-IgE syndromes.
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.
Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.
Recombinant human hyaluronidase-facilitated subcutaneous infusion of human immunoglobulins for primary immunodeficiency.
Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development.
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.
Neonatal screening for severe combined immunodeficiency.
The case for newborn screening for severe combined immunodeficiency and related disorders.
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Expert commentary: practical issues in newborn screening for severe combined immune deficiency (SCID).
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID.
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID).
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.
Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
Primary immunodeficiencies: 2009 update.
Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS).
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.
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs.
The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency.
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases.
Population-based newborn screening for severe combined immunodeficiency.
Neonatal screening for severe combined immune deficiency.
Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome.
Population-based newborn screening for severe combined immunodeficiency: steps toward implementation.
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
Primary immunodeficiency: meeting the challenges.
STAT3 mutations in the hyper-IgE syndrome.
IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib.
NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
Causes of death in hyper-IgE syndrome.
Severe combined immunodeficiency: new advances in diagnosis and treatment.
Lessons from the Wiskott-Aldrich syndrome.
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.
Gene therapy for immune disorders: good news tempered by bad news.
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005.
Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS).
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.
HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).
Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome.
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome.
Development of population-based newborn screening for severe combined immunodeficiency.
Hyper-IgE syndromes.
Perspectives of gene therapy for primary immunodeficiencies.
Induction of apoptosis and activation of NF-kappaB by CD95 require different signalling thresholds.
Somatic mutations--not just for cancer anymore.
Dermatitis and the newborn rash of hyper-IgE syndrome.
Primary immunodeficiency diseases: an update.
A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures.
Successes and risks of gene therapy in primary immunodeficiencies.
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array.
Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency.
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity.
Immune disorders caused by defects in the caspase cascade.
Immunodeficiency disorders.
Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome.
Hypo-active variant of IL-2 and associated decreased T cell activation contribute to impaired apoptosis in autoimmune prone MRL mice.
Drug selection with paclitaxel restores expression of linked IL-2 receptor gamma -chain and multidrug resistance (MDR1) transgenes in canine bone marrow.
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.
An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.
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.
The autoimmune lymphoproliferative syndrome. A disorder of human lymphocyte apoptosis.
Family pictures: growing up with a brother with X-linked severe combined immunodeficiency.
Primary immunodeficiency mutation databases.
Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency.
A disease gene for autosomal hyper-IgM syndrome: more genes associated with more immunodeficiencies.
Genetic testing and screening in pediatric populations.
Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.
Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome.
Lymphoid development and function in X-linked severe combined immunodeficiency mice after stem cell gene therapy.
Autoimmune lymphoproliferative syndrome, a disorder of apoptosis.
Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome.
Genetic linkage of hyper-IgE syndrome to chromosome 4.
Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.
Severe combined immunodeficiency in an infant with multiple congenital abnormalities.
Canine lymphocyte expression of retrovirally transferred human common gamma chain.
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.
An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome.
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.
Pathological findings in human autoimmune lymphoproliferative syndrome.
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.
The timing of twinning: more insights from X inactivation.
The interleukin-4 receptor variant Q576R in hyper-IgE syndrome.
X inactivation in females with X-linked disease.
The Canale-Smith syndrome.
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.
Interleukin-4 signaling in B lymphocytes from patients with X-linked severe combined immunodeficiency.
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.
Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors.
Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity.
ALPS: an autoimmune human lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.
Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.
Genomic structure and mapping of human FADD, an intracellular mediator of lymphocyte apoptosis.
Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow.
IL2RGbase: a database of gamma c-chain defects causing human X-SCID.
Interleukin-4-specific signal transduction events are driven by homotypic interactions of the interleukin-4 receptor alpha subunit.
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.
Gene localization and syntenic mapping by FISH in the dog.
Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
Molecular and genetic basis of X-linked immunodeficiency disorders.
Seven chromosome 22 STR polymorphisms.
Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34.
Molecular basis for three X-linked immune disorders.
Painful discoloration of the fingernails in a 15-year-old boy.
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.
Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13.
T-cell-depleted maternal bone marrow transplantation for siblings with X-linked severe combined immunodeficiency.
Catheter-related Fusarium solani fungemia and pulmonary infection in a patient with leukemia in remission.
X-linked immunodeficiencies.
Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency.
Dinucleotide repeat polymorphism at the DXS441 locus.
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency.
A high-frequency RFLP at the human TFE3 locus on the X chromosome.
An adenovirus recombinant that expresses the human cytomegalovirus major envelope glycoprotein and induces neutralizing antibodies.
Clonal analysis of solitary follicular nodules in the thyroid.
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome.
X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome.
X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings.
Prenatal test for X-linked severe combined immunodeficiency by analysis of maternal X-chromosome inactivation and linkage analysis.
RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP.
X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis.
Evaluation of the stability and sporicidal activity of three glutaraldehyde solutions during hospital continuous use.
Report of the committee on the genetic constitution of the X chromosome.
Definition of the gene loci in X-linked immunodeficiencies.
Carrier detection in typical and atypical X-linked agammaglobulinemia.
Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency.
Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.
Branhamella catarrhalis sepsis.
Disproportionate expansion of a minor T cell subset in patients with lymphadenopathy syndrome and acquired immunodeficiency syndrome.
Gene for alpha-chain of human T-cell receptor: location on chromosome 14 region involved in T-cell neoplasms.
In vitro human lymphocyte responses to Cryptococcus neoformans. Evidence for primary and secondary responses in normals and infected subjects.
Regulatory interactions governing the proliferation of T cell subsets stimulated with pokeweed mitogen.
Lymphocyte subsets in patients with acquired immunodeficiency syndrome (AIDS), aids-related complex (ARC), and acute viral infections.
Antigen presentation to human T lymphocytes. II. Requirements for Mac-120+ macrophages and responsiveness to interleukin 2.
Bromodeoxyuridine and light treatment enhances responsiveness of pokeweed mitogen-stimulated human lymphocytes to autologous and allogeneic determinants.
Antigen presentation to human T lymphocytes. I. Different requirements for stimulation by hapten-modified cells vs. cell sonicates.
Computerized tomography in brain biopsy-proven herpes simplex encephalitis. Early normal results.
Protection of infants from infection with influenza A virus by transplacentally acquired antibody.
Microneutralization test for influenza A and B and parainfluenza 1 and 2 viruses that uses continuous cell lines and fresh serum enhancement.
Role of Ia-positive cells in induction of secondary human immune responses to haptens in vitro.
Recurrence risks for retinoblastoma: a model for autosomal dominant disorders with complex inheritance.
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