Jennifer M Puck

Jennifer M Puck

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Jennifer M Puck

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Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1.

N Engl J Med 2019 04;380(16):1525-1534

From the Departments of Bone Marrow Transplantation and Cellular Therapy (E.M., B.T., W.J., S.G.), Hematology (S.Z., Z.M., J.C., J.D., X.T., B.Y.R., M.J.W., B.P.S.), Therapeutics Production and Quality (T.L., M.M.M.), Immunology (H.A., B.Y.), Pharmaceutical Sciences (S.J.C.), Biostatistics (G.K., C.L.), and Infectious Diseases (G.M.), St. Jude Children's Research Hospital, Memphis, TN; the Allergy and Clinical Immunology Division, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru (J.C.A.B.); the Department of Pediatrics, Allergy-Immunology Division, Children's Hospital Los Angeles, Los Angeles (J.A.C.), and the Department of Pediatrics, Division of Pediatric Allergy-Immunology-Bone Marrow Transplantation, University of California, San Francisco (UCSF) Benioff Children's Hospital, San Francisco (J.R.L.-B., J.M.P., M.J.C.) - both in California; the Department of Pediatrics, Pediatric Allergy and Immunology, University of New Mexico, Albuquerque (E.D.); University of Oklahoma Health Sciences Center, Tulsa (J.T.L.); Departamento de Pediatria da Universidade de Taubaté, Conselho Nacional de Medicina, São Paulo (A.C.M.A.); Copperfield Childcare, Claremont, South Africa (H.W.); and the Genetic Immunotherapy Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD (S.S.D.R., H.L.M.).

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http://www.nejm.org/doi/10.1056/NEJMoa1815408
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http://dx.doi.org/10.1056/NEJMoa1815408DOI Listing
April 2019

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.

J Allergy Clin Immunol 2019 Mar 5;143(3):852-863. Epub 2018 Sep 5.

Division of Immunology and Allergy, and the Department of Pediatrics, Developmental and Stem Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.08.024DOI Listing
March 2019

Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency.

Biol Blood Marrow Transplant 2019 Mar 12. Epub 2019 Mar 12.

Division of Pediatric Allergy, Immunology, and Bone Marrow Transplantation, University of California San Francisco Benioff Children's Hospital, San Francisco, California.

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http://dx.doi.org/10.1016/j.bbmt.2019.03.008DOI Listing
March 2019

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

J Allergy Clin Immunol Pract 2019 Mar 12. Epub 2019 Mar 12.

University of South Florida and Johns Hopkins All Children's Hospital, Saint Petersburg, Fla; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.02.038DOI Listing
March 2019

Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.

Immunol Allergy Clin North Am 2019 Feb 1;39(1):1-11. Epub 2018 Nov 1.

Department of Pediatrics, University of California San Francisco, Box 3118, 555 Mission Bay Boulevard South, Rm SC-252K, San Francisco, CA 94143, USA.

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http://dx.doi.org/10.1016/j.iac.2018.08.002DOI Listing
February 2019

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.

Authors:
Jennifer M Puck

Immunol Rev 2019 Jan;287(1):241-252

Division of Allergy, Immunology and Blood and Marrow Transplantation, Department of Pediatrics, UCSF, San Francisco, California.

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http://dx.doi.org/10.1111/imr.12729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324582PMC
January 2019

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.

Blood 2018 Oct 28;132(17):1737-1749. Epub 2018 Aug 28.

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1182/blood-2018-03-840702DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202916PMC
October 2018

Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening.

Blood Adv 2017 Sep 5;1(20):1694-1698. Epub 2017 Sep 5.

Division of Pediatric Allergy, Immunology and Bone Marrow Transplantation, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA.

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http://dx.doi.org/10.1182/bloodadvances.2017010835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728344PMC
September 2017

Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.

J Allergy Clin Immunol 2017 03 30;139(3):1032-1035.e6. Epub 2016 Sep 30.

Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.08.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5342918PMC
March 2017

Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening.

J Allergy Clin Immunol 2017 Mar;139(3):733-742

Department of Pediatrics, Division of Allergy, Immunology, and Bone Marrow Transplantation, University of California, San Francisco, Calif.

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http://dx.doi.org/10.1016/j.jaci.2017.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385855PMC
March 2017

Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency.

Hum Gene Ther 2017 01 7;28(1):112-124. Epub 2016 Sep 7.

1 Department of Pediatrics, University of California School of Medicine and University of California San Francisco Benioff Children's Hospital , San Francisco, San Francisco, California.

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http://dx.doi.org/10.1089/hum.2016.064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278830PMC
January 2017

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

N Engl J Med 2016 12;375(22):2165-2176

From the Department of Pediatrics, University of California, San Francisco (UCSF), School of Medicine and UCSF Benioff Children's Hospital (D.P., J.Y., M.J.C., A.K., B.A.M., J.M.P.), and the Cardiovascular Research Institute, UCSF (C.O.L.), San Francisco, and the Department of Plant and Microbial Biology, University of California, Berkeley, Berkeley (A.N.A., S.E.B.) - all in California; the Blood Cell Development and Function Program, Fox Chase Cancer Center, Philadelphia (Y.Z., S.P.F., D.L.W.); and Innovation Labs, Tata Consultancy Services, Telangana, India (S.R., A.C., R.S.).

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http://dx.doi.org/10.1056/NEJMoa1509164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215776PMC
December 2016

Primary Immune Deficiency Treatment Consortium (PIDTC) update.

J Allergy Clin Immunol 2016 08 22;138(2):375-85. Epub 2016 Apr 22.

Pediatric Immunology and Pediatrics, Mother and Child Ste-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.jaci.2016.01.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986691PMC
August 2016

Severe combined immunodeficiencies and related disorders.

Nat Rev Dis Primers 2015 10 29;1:15061. Epub 2015 Oct 29.

Division of Allergy, Immunology and Blood and Marrow Transplantation, Department of Pediatrics, University of California at San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1038/nrdp.2015.61DOI Listing
October 2015

IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.

J Clin Immunol 2015 Jul 17;35(5):449-53. Epub 2015 Jun 17.

National Institute of Allergy and Infectious Diseases, National Institutes of Health, Laboratory of Clinical Infectious Diseases, Bethesda, MD, USA.

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http://link.springer.com/10.1007/s10875-015-0174-0
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http://dx.doi.org/10.1007/s10875-015-0174-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504777PMC
July 2015

Successful newborn screening for SCID in the Navajo Nation.

Clin Immunol 2015 May 8;158(1):29-34. Epub 2015 Mar 8.

Allergy Immunology and Blood and Marrow Transplant Division, Department of Pediatrics, Benioff Children's Hospital and University of California San Francisco, San Francisco, CA 94143, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2015.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4420660PMC
May 2015

History and current status of newborn screening for severe combined immunodeficiency.

Semin Perinatol 2015 Apr 30;39(3):194-205. Epub 2015 Apr 30.

Department of Pediatrics, UCSF Benioff Children's Hospital, University of California San Francisco, Box 0519, 513 Parnassus Ave, HSE 301A, San Francisco, CA 94143-0519. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01460005150002
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http://dx.doi.org/10.1053/j.semperi.2015.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4433840PMC
April 2015

Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.

J Clin Immunol 2015 Feb 28;35(2):135-46. Epub 2015 Jan 28.

Department of Pediatrics, University of California San Francisco School of Medicine, and UCSF Benioff Children's Hospital, Box 0519, 513 Parnassus Avenue, HSE-301A, San Francisco, CA, 94143-0519, USA.

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http://dx.doi.org/10.1007/s10875-014-0125-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352191PMC
February 2015

Coronin-1A: immune deficiency in humans and mice.

J Clin Immunol 2015 Feb 10;35(2):100-7. Epub 2015 Feb 10.

Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, Box 0519, 513 Parnassus Avenue, HSE 301A, San Francisco, CA, 94143-0519, USA.

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http://link.springer.com/10.1007/s10875-015-0130-z
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http://dx.doi.org/10.1007/s10875-015-0130-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489527PMC
February 2015

Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).

J Clin Immunol 2015 Feb 13;35(2):227-33. Epub 2015 Feb 13.

Division of General Pediatrics, Children's Hospital of Los Angeles, Los Angeles, CA, USA,

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http://dx.doi.org/10.1007/s10875-015-0136-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352190PMC
February 2015

A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency.

Pediatr Transplant 2014 Sep 30;18(6):602-8. Epub 2014 Jun 30.

Division of Pediatric Allergy, Immunology and Blood and Marrow Transplant, University of California San Francisco Benioff Children's Hospital, San Francisco, CA, USA.

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http://dx.doi.org/10.1111/petr.12309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413354PMC
September 2014

A trial of alemtuzumab adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency.

Pediatr Transplant 2014 Sep 30;18(6):609-16. Epub 2014 Jun 30.

Division of Pediatric Allergy, Immunology, and Blood and Marrow Transplant, University of California San Francisco, Benioff Children's Hospital, San Francisco, CA, USA.

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http://dx.doi.org/10.1111/petr.12310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134761PMC
September 2014

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

JAMA 2014 Aug;312(7):729-38

Department of Pediatrics, University of California, San Francisco, San Francisco2UCSF Benioff Children's Hospital, San Francisco, California.

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http://primaryimmune.org/wp-content/uploads/2014/10/August-2
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http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabl
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http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.20
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http://dx.doi.org/10.1001/jama.2014.9132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492158PMC
August 2014

USIDNET: a strategy to build a community of clinical immunologists.

J Clin Immunol 2014 May 8;34(4):428-35. Epub 2014 Apr 8.

Department of Pediatrics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA,

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http://link.springer.com/10.1007/s10875-014-0028-1
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http://dx.doi.org/10.1007/s10875-014-0028-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046905PMC
May 2014

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.

Front Immunol 2014 22;5:162. Epub 2014 Apr 22.

Murdoch Childrens Research Institute , Melbourne, VIC , Australia ; Department of Paediatrics, University of Melbourne , Melbourne, VIC , Australia ; Department of Allergy and Immunology, Royal Children's Hospital , Melbourne, VIC , Australia.

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http://dx.doi.org/10.3389/fimmu.2014.00162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001072PMC
May 2014

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

Blood 2014 Mar 7;123(13):1989-99. Epub 2014 Jan 7.

Molecular Development Section, Laboratory of Immunology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

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http://www.bloodjournal.org/lookup/doi/10.1182/blood-2013-10
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http://dx.doi.org/10.1182/blood-2013-10-535393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968385PMC
March 2014

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.

J Allergy Clin Immunol 2013 Jun 25;131(6):1586-93. Epub 2013 Apr 25.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md., USA.

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http://dx.doi.org/10.1016/j.jaci.2013.02.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103905PMC
June 2013

Reply: To PMID 22285280.

Authors:
Jennifer M Puck

J Allergy Clin Immunol 2013 Apr 12;131(4):1252-3. Epub 2013 Jan 12.

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https://linkinghub.elsevier.com/retrieve/pii/S00916749120192
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http://dx.doi.org/10.1016/j.jaci.2012.09.040DOI Listing
April 2013

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.

Authors:
Jennifer M Puck

J Allergy Clin Immunol 2012 Mar 29;129(3):607-16. Epub 2012 Jan 29.

Division of Allergy, Immunology and Bone Marrow Transplantation, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143-0519, USA.

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http://dx.doi.org/10.1016/j.jaci.2012.01.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3294074PMC
March 2012

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.

Genet Med 2012 Jan 7;14(1):81-9. Epub 2011 Oct 7.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.0b013e3182310b7dDOI Listing
January 2012

Neonatal screening for severe combined immunodeficiency.

Authors:
Jennifer M Puck

Curr Opin Pediatr 2011 Dec;23(6):667-73

Department of Pediatrics, University of California San Francisco, UCSF Benioff Children's Hospital, San Francisco, California, USA.

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https://insights.ovid.com/crossref?an=00008480-201112000-000
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http://dx.doi.org/10.1097/MOP.0b013e32834cb9b0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3299571PMC
December 2011

The case for newborn screening for severe combined immunodeficiency and related disorders.

Authors:
Jennifer M Puck

Ann N Y Acad Sci 2011 Dec;1246:108-17

Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.

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http://doi.wiley.com/10.1111/j.1749-6632.2011.06346.x
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http://dx.doi.org/10.1111/j.1749-6632.2011.06346.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474477PMC
December 2011

A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID).

Mol Genet Metab 2011 Nov 12;104(3):383-9. Epub 2011 Jul 12.

Department of Health Sciences, College of Health and Rehabilitation Sciences: Sargent College, Boston University, Boston, MA 02215, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100233
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http://dx.doi.org/10.1016/j.ymgme.2011.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3205197PMC
November 2011

Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID.

Pediatr Transplant 2011 Nov 23;15(7):733-41. Epub 2011 Aug 23.

Division of Immunology and Allergy, Department of Pediatrics, Stanford University School of Medicine and Lucile Packard Children's Hospital at Stanford, Palo Alto, CA, USA.

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http://dx.doi.org/10.1111/j.1399-3046.2011.01563.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196791PMC
November 2011

Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.

Clin Immunol 2011 Jan 28;138(1):3-8. Epub 2010 Oct 28.

Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S152166161000735
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http://dx.doi.org/10.1016/j.clim.2010.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3022101PMC
January 2011

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

Clin Immunol 2009 Apr 20;131(1):24-30. Epub 2008 Dec 20.

Biomedical Sciences Graduate Program, Department of Microbiology and Immunology, University of California San Francisco, San Francisco, CA 94143-0519, USA.

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http://dx.doi.org/10.1016/j.clim.2008.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2692687PMC
April 2009

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.

Genet Med 2008 Aug;10(8):575-85

Department of Pediatrics, University of California San Francisco School of Medicine, San Francisco, California 94143-0519, USA.

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http://dx.doi.org/10.1097GIM.0b013e31818063bcDOI Listing
August 2008

Severe combined immunodeficiency: new advances in diagnosis and treatment.

Authors:
Jennifer M Puck

Immunol Res 2007 ;38(1-3):64-7

Department of Pediatrics, University of California, HSE 301A, 513 Parnassus Avenue, San Francisco, CA 94143-0519, USA.

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January 2008

Population-based newborn screening for severe combined immunodeficiency.

Authors:
Jennifer M Puck

Biol Blood Marrow Transplant 2008 Jan;14(1 Suppl 1):78-80

Pediatric Immunology Division, UCSF Children's Hospital, San Francisco, California, USA.

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January 2008

Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome.

Am J Hematol 2007 Dec;82(12):1049-55

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ajh.21007DOI Listing
December 2007

Neonatal screening for severe combined immune deficiency.

Authors:
Jennifer M Puck

Curr Opin Allergy Clin Immunol 2007 Dec;7(6):522-7

Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143-0519, USA.

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https://insights.ovid.com/crossref?an=00130832-200712000-000
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http://dx.doi.org/10.1097/ACI.0b013e3282f14a2aDOI Listing
December 2007

The hyper-IgE syndrome is not caused by a microdeletion syndrome.

Immunogenetics 2007 Dec 14;59(12):913-26. Epub 2007 Nov 14.

Department of Hematology and Oncology, University Hospital Freiburg, Hugstetterstrasse 55, 79106, Freiburg, Germany.

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http://link.springer.com/10.1007/s00251-007-0257-z
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http://dx.doi.org/10.1007/s00251-007-0257-zDOI Listing
December 2007

Population-based newborn screening for severe combined immunodeficiency: steps toward implementation.

J Allergy Clin Immunol 2007 Oct;120(4):760-8

Department of Pediatrics, University of California, San Francisco, CA 94143-0519, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009167490701643
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http://dx.doi.org/10.1016/j.jaci.2007.08.043DOI Listing
October 2007

Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency.

Blood 2007 Jul 16;110(1):67-73. Epub 2007 Mar 16.

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.

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http://dx.doi.org/10.1182/blood-2006-11-058933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1896128PMC
July 2007

Causes of death in hyper-IgE syndrome.

J Allergy Clin Immunol 2007 May 1;119(5):1234-40. Epub 2007 Mar 1.

National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-1684, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009167490700232
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http://dx.doi.org/10.1016/j.jaci.2006.12.666DOI Listing
May 2007

Brain abnormalities in patients with hyperimmunoglobulin E syndrome.

Pediatrics 2007 May 16;119(5):e1121-5. Epub 2007 Apr 16.

National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://pediatrics.aappublications.org/content/pediatrics/119
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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2006-2649DOI Listing
May 2007

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

Proc Natl Acad Sci U S A 2007 May 16;104(21):8953-8. Epub 2007 May 16.

Department of Laboratory Medicine, Clinical Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.0702975104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1885609PMC
May 2007

Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome.

Pediatrics 2006 Oct 28;118(4):e1271-5. Epub 2006 Aug 28.

National Institute of Allergy and Infectious Disease, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2006-0311DOI Listing
October 2006

Lessons from the Wiskott-Aldrich syndrome.

N Engl J Med 2006 Oct;355(17):1759-61

Department of Pediatrics, University of California, San Francisco, San Francisco, USA.

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http://dx.doi.org/10.1056/NEJMp068209DOI Listing
October 2006

A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.

J Hum Genet 2006 7;51(5):495-7. Epub 2006 Apr 7.

Department of Medical Genetics and Child Development, University of Pécs, József A. u. 7, 7623, Pécs, Hungary.

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http://dx.doi.org/10.1007/s10038-006-0386-5DOI Listing
August 2006

Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.

Hum Genet 2006 Apr 31;119(3):284-94. Epub 2006 Jan 31.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, NIH, DHHS, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1007/s00439-006-0138-9DOI Listing
April 2006

Gene therapy for immune disorders: good news tempered by bad news.

J Allergy Clin Immunol 2006 Apr;117(4):865-9

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009167490600299
Publisher Site
http://dx.doi.org/10.1016/j.jaci.2006.01.041DOI Listing
April 2006