Professor, Pediatrics, UCSF School of Medicine

Pediatric Endocrinology

Jennifer Puck practices Pediatric Endocrinology. She attended Harvard Medical School. Harvard Medical School is a top medical university. Harvard Medical School is ranked 1/12 in Research/PrimaryCare. She received 1 awards: "Elected Member". Dr. Jennifer M. Puck is also a published doctor. She has 74 paper published. The most recent paper is: A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.

Publications

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• Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficienc...
• Successful newborn screening for SCID in the Navajo Nation.
• A prudent path forward for genomic engineering and germline gene modification.
• Coronin-1A: Immune Deficiency in Humans and Mice.
• Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs).
• Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation.
• A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency.
• A trial of alemtuzumab adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency.
• USIDNET: A Strategy to Build a Community of Clinical Immunologists.
• Bone Density and Fractures in Autosomal Dominant Hyper IgE Syndrome.
• Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.
• Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortiu...
• Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years.
• The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consort...
• Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia.
• 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.
• Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.
• The case for newborn screening for severe combined immunodeficiency and related disorders.
• Neonatal screening for severe combined immunodeficiency.
• IL-21 is the primary common gamma chain-binding cytokine required for human B-cell differentiation in vivo.
• 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 dete...
• 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.
• Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.
• Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
• Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
• 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.
• Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
• Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.
• Population-based newborn screening for severe combined immunodeficiency.
• The hyper-IgE syndrome is not caused by a microdeletion syndrome.
• 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.
• STAT3 mutations in the hyper-IgE syndrome.
• Primary immunodeficiency: meeting the challenges.
• Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency.
• NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
• Causes of death in hyper-IgE syndrome.
• Brain abnormalities in patients with hyperimmunoglobulin E syndrome.
• The hyper IgE syndrome and mutations in TYK2.
• Severe combined immunodeficiency: new advances in diagnosis and treatment.
• Lessons from the Wiskott-Aldrich syndrome.
• Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome.
• Gene therapy for immune disorders: good news tempered by bad news.
• Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS).
• 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.
• Development of population-based newborn screening for severe combined immunodeficiency.
• Perspectives of gene therapy for primary immunodeficiencies.
• Somatic mutations--not just for cancer anymore.
• Dermatitis and the newborn rash of hyper-IgE syndrome.
• A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures.
• Successes and risks of gene therapy in primary immunodeficiencies.
• Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array.
• Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.
• Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity.
• Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency.
• Immune disorders caused by defects in the caspase cascade.
• Immunodeficiency disorders.
• Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome.
• Retroviral transduction of IL2RG into CD34(+) cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras.
• Drug selection with paclitaxel restores expression of linked IL-2 receptor gamma -chain and multidrug resistance (MDR1) transgenes in canine bone marrow.
• Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival.
• A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.

Schools

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• Harvard Medical School

• St Louis Chldns Hospital Wash University

Doctors Specialties

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• Pediatrics
• Pediatric Endocrinology

Accepted Insurances

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Awards

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• Elected Member

Education

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• Baylor College of Medicine
• Harvard Medical School

Hospital

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• UCSF Medical Center

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