JENNIFER MAXWELL PUCK

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi request reprint Neonatal screening for severe combined immune deficiency
    Jennifer M Puck
    Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143 0519, USA
    Curr Opin Allergy Clin Immunol 7:522-7. 2007
  2. pmc Newborn screening for SCID identifies patients with ataxia telangiectasia
    Jacob Mallott
    Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143 0519, USA
    J Clin Immunol 33:540-9. 2013
  3. pmc Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles
    Jennifer M Puck
    Division of Allergy, Immunology and Bone Marrow Transplantation, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143 0519, USA
    J Allergy Clin Immunol 129:607-16. 2012
  4. pmc Neonatal screening for severe combined immunodeficiency
    Jennifer M Puck
    Department of Pediatrics, University of California San Francisco, UCSF Benioff Children s Hospital, San Francisco, California, USA
    Curr Opin Pediatr 23:667-73. 2011
  5. doi request reprint The case for newborn screening for severe combined immunodeficiency and related disorders
    Jennifer M Puck
    Department of Pediatrics, University of California San Francisco, San Francisco, California, USA
    Ann N Y Acad Sci 1246:108-17. 2011
  6. pmc Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib
    Lilia L Bi
    Center for Biologics Evaluation and Research, FDA, Rockville, Maryland, USA
    BMC Med Genet 8:41. 2007
  7. ncbi request reprint Severe combined immunodeficiency: new advances in diagnosis and treatment
    Jennifer M Puck
    Department of Pediatrics, University of California, HSE 301A, 513 Parnassus Avenue, San Francisco, CA 94143 0519, USA
    Immunol Res 38:64-7. 2007
  8. ncbi request reprint Population-based newborn screening for severe combined immunodeficiency: steps toward implementation
    Jennifer M Puck
    Department of Pediatrics, University of California, San Francisco, CA 94143 0519, USA
    J Allergy Clin Immunol 120:760-8. 2007
  9. doi request reprint Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray
    Tonya Lebet
    Department of Pediatrics, University of California San Francisco School of Medicine, San Francisco, California 94143 0519, USA
    Genet Med 10:575-85. 2008
  10. pmc Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion
    Lawrence R Shiow
    Biomedical Sciences Graduate Program, Department of Microbiology and Immunology, University of California San Francisco, San Francisco, CA 94143 0519, USA
    Clin Immunol 131:24-30. 2009

Research Grants

  1. Inherited Disorders of Lymphocyte Development
    JENNIFER MAXWELL PUCK; Fiscal Year: 2010
  2. Inherited Disorders of Lymphocyte Development
    JENNIFER MAXWELL PUCK; Fiscal Year: 2011

Collaborators

  • H L Malech
  • LAURA HALE
  • Rebecca H Buckley
  • Lawrence R Shiow
  • Amy P Hsu
  • Javier Chinen
  • Tonya Lebet
  • Jacob Mallott
  • Kenneth Paris
  • Jason G Cyster
  • Ricardo U Sorensen
  • Lilia L Bi
  • William T Shearer
  • Richard Kellermayer
  • Kee Chan
  • Emily J Tsai
  • Laurie A Myers
  • Uma Sunderam
  • Sadhna Rana
  • Rajgopal Srinivasan
  • Joseph Church
  • Steven E Brenner
  • Diana Gonzalez-Espinosa
  • Antonia Kwan
  • Ling Fung Tang
  • Fred Lorey
  • Matthew C Akana
  • Christopher C Goodnow
  • Richard Chiles
  • Niko Föger
  • Craig N Jenne
  • Ying Xu
  • Irina L Grigorova
  • Janet A Warrington
  • Elaine S Mansfield
  • Jinping An
  • Susan R Watson
  • James E Bear
  • David W Roadcap
  • Narda L Whiting-Theobald
  • Nora Naumann
  • Suk See De Ravin
  • Gilda F Linton
  • Effie Y H Nomicos
  • Lixin Zheng
  • Janet K Dale
  • T Prescott Atkinson
  • George Pan
  • Vishnu Reddy
  • Beverly N Hay
  • Richard M Siegel
  • Christopher Makris
  • Jean Ulrick
  • Christopher Silvin
  • Joie Davis
  • Stephen E Straus
  • Jay M McDonald
  • Michael J Lenardo
  • Peter Balogh
  • Gyorgy Kosztolanyi
  • Pal Kajtar
  • Agnes Vojcek
  • Laszlo Marodi
  • Jozsef Stankovics
  • Kinga Hadzsiev
  • Christopher D Porada
  • David M Bodine
  • Esmail D Zanjani
  • Dhavalkumar D Patel
  • Nancy E Seidel
  • Martha R Kirby

Detail Information

Publications20

  1. ncbi request reprint Neonatal screening for severe combined immune deficiency
    Jennifer M Puck
    Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143 0519, USA
    Curr Opin Allergy Clin Immunol 7:522-7. 2007
    ..In this review, the justification, advances to date and remaining challenges for universal severe combined immunodeficiency screening are outlined...
  2. pmc Newborn screening for SCID identifies patients with ataxia telangiectasia
    Jacob Mallott
    Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143 0519, USA
    J Clin Immunol 33:540-9. 2013
    ..Deep sequencing was employed to find causes of T lymphocytopenia in such infants...
  3. pmc Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles
    Jennifer M Puck
    Division of Allergy, Immunology and Bone Marrow Transplantation, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143 0519, USA
    J Allergy Clin Immunol 129:607-16. 2012
    ..TREC testing of newborns is now being performed in several states, indicating that this addition to the newborn screening panel can be successfully integrated into state public health programs...
  4. pmc Neonatal screening for severe combined immunodeficiency
    Jennifer M Puck
    Department of Pediatrics, University of California San Francisco, UCSF Benioff Children s Hospital, San Francisco, California, USA
    Curr Opin Pediatr 23:667-73. 2011
    ..This review summarizes the rationale, development and implementation of SCID screening programs to date and highlights current and future challenges...
  5. doi request reprint The case for newborn screening for severe combined immunodeficiency and related disorders
    Jennifer M Puck
    Department of Pediatrics, University of California San Francisco, San Francisco, California, USA
    Ann N Y Acad Sci 1246:108-17. 2011
    ..A variety of cases with typical SCID genotypes and other T lymphocytopenic conditions have been detected in a timely manner and referred for appropriate early treatment...
  6. pmc Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib
    Lilia L Bi
    Center for Biologics Evaluation and Research, FDA, Rockville, Maryland, USA
    BMC Med Genet 8:41. 2007
    ....
  7. ncbi request reprint Severe combined immunodeficiency: new advances in diagnosis and treatment
    Jennifer M Puck
    Department of Pediatrics, University of California, HSE 301A, 513 Parnassus Avenue, San Francisco, CA 94143 0519, USA
    Immunol Res 38:64-7. 2007
    ..Infectious complications are a major limitation to effective treatment. Early diagnosis of SCID in the pre-symptomatic period could be achieved by population-based newborn screening...
  8. ncbi request reprint Population-based newborn screening for severe combined immunodeficiency: steps toward implementation
    Jennifer M Puck
    Department of Pediatrics, University of California, San Francisco, CA 94143 0519, USA
    J Allergy Clin Immunol 120:760-8. 2007
    ....
  9. doi request reprint Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray
    Tonya Lebet
    Department of Pediatrics, University of California San Francisco School of Medicine, San Francisco, California 94143 0519, USA
    Genet Med 10:575-85. 2008
    ..A resequencing microarray could facilitate mutation detection, increasing the chance of diagnosing infants early for optimal rescue by hematopoietic stem cell transplantation...
  10. pmc Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion
    Lawrence R Shiow
    Biomedical Sciences Graduate Program, Department of Microbiology and Immunology, University of California San Francisco, San Francisco, CA 94143 0519, USA
    Clin Immunol 131:24-30. 2009
    ..This case highlights the first link between actin cytoskeleton regulation and SCID...
  11. pmc The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency
    Lawrence R Shiow
    Howard Hughes Medical Institute, University of California San Francisco, San Francisco, California 94143, USA
    Nat Immunol 9:1307-15. 2008
    ....
  12. ncbi request reprint Primary immunodeficiency: meeting the challenges
    William T Shearer
    J Allergy Clin Immunol 120:753-5. 2007
  13. pmc Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency
    Javier Chinen
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892 1456, USA
    Blood 110:67-73. 2007
    ..T-cell function significantly improved in the youngest subject (age 10 years), and multilineage retroviral marking occurred in all 3 children...
  14. ncbi request reprint Gene therapy for immune disorders: good news tempered by bad news
    Jennifer M Puck
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    J Allergy Clin Immunol 117:865-9. 2006
    ..Unfortunately, bad news followed. Three of the patients experienced leukemic T-cell expansions, found to be associated with retroviral insertions into genomic DNA. Where does the field stand today?..
  15. ncbi request reprint A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University of Pecs, József A u 7, 7623, Pecs, Hungary
    J Hum Genet 51:495-7. 2006
    ....
  16. ncbi request reprint Development of population-based newborn screening for severe combined immunodeficiency
    Kee Chan
    National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
    J Allergy Clin Immunol 115:391-8. 2005
    ..Currently no population screening exists for SCID, but early diagnosis would improve outcome...
  17. ncbi request reprint Perspectives of gene therapy for primary immunodeficiencies
    Javier Chinen
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Curr Opin Allergy Clin Immunol 4:523-7. 2004
    ..We summarize the recent advances in gene therapy for primary immunodeficiencies and discuss the unexpected occurrence of leukemia in a gene therapy trial for X-linked severe combined immunodeficiency...
  18. ncbi request reprint Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency
    Laura P Hale
    Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA
    Clin Immunol 110:63-70. 2004
    ..These histopathologic findings indicate that in addition to T cells, thymic DC development and differentiation of TE cells are also abnormal in X-SCID...
  19. ncbi request reprint Retroviral transduction of IL2RG into CD34(+) cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras
    Emily J Tsai
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Blood 100:72-9. 2002
    ..These results suggest that gene transfer to autologous peripheral CD34(+) cells using MFGS-gc retrovirus may benefit XSCID patients with persistent T- and B-cell deficits despite prior BMT...
  20. ncbi request reprint Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival
    Laurie A Myers
    Duke University Medical Center, Durham, NC 27710, USA
    Blood 99:872-8. 2002
    ..An improved outcome for this otherwise fatal syndrome could be achieved with newborn screening for lymphopenia so that transplantation could be performed under favorable thymopoietic conditions...

Research Grants3

  1. Inherited Disorders of Lymphocyte Development
    JENNIFER MAXWELL PUCK; Fiscal Year: 2010
    ..We will investigate how Zbtb1 and its targets function in developing mouse and human lymphoid cells and determine whether defects in Zbtb1 or the genes it acts upon cause human disorders of immunity. ..
  2. Inherited Disorders of Lymphocyte Development
    JENNIFER MAXWELL PUCK; Fiscal Year: 2011
    ..We will investigate how Zbtb1 and its targets function in developing mouse and human lymphoid cells and determine whether defects in Zbtb1 or the genes it acts upon cause human disorders of immunity. ..