JENNIFER MAXWELL PUCKSummaryAffiliation: University of California Country: USA Publications
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Publications
Neonatal screening for severe combined immune deficiencyJennifer 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...
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circlesJennifer 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...- Neonatal screening for severe combined immunodeficiencyJennifer 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... 
The case for newborn screening for severe combined immunodeficiency and related disordersJennifer 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...- Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type IbLilia L Bi
Center for Biologics Evaluation and Research, FDA, Rockville, Maryland, USA
BMC Med Genet 8:41. 2007.... - Population-based newborn screening for severe combined immunodeficiency: steps toward implementationJennifer M Puck
Department of Pediatrics, University of California, San Francisco, CA 94143 0519, USA
J Allergy Clin Immunol 120:760-8. 2007.... - Severe combined immunodeficiency: new advances in diagnosis and treatmentJennifer 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... - Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarrayTonya 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... - Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletionLawrence 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... - The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiencyLawrence R Shiow
Howard Hughes Medical Institute, University of California San Francisco, San Francisco, California 94143, USA
Nat Immunol 9:1307-15. 2008.... - Retroviral transduction of IL2RG into CD34(+) cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimerasEmily 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... - Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiencyLaura 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... - Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiencyJavier 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... - Perspectives of gene therapy for primary immunodeficienciesJavier 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.... - Development of population-based newborn screening for severe combined immunodeficiencyKee Chan
National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
J Allergy Clin Immunol 115:391-8. 2005..CONCLUSION: TRECs are a stable analyte that can identify T-cell lymphopenia in newborn dried blood spots so that infants with SCID can receive early, life-saving treatment... - Primary immunodeficiency: meeting the challengesWilliam T Shearer
J Allergy Clin Immunol 120:753-5. 2007 - A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiencyRichard 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.... - Gene therapy for immune disorders: good news tempered by bad newsJennifer 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?.. - Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survivalLaurie 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 Grants
- Inherited Disorders of Lymphocyte DevelopmentJENNIFER 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. ..
- Inherited Disorders of Lymphocyte DevelopmentJENNIFER 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. ..