Publications by authors named "Janet Chou"

92Publications

LRRC8 family proteins within lysosomes regulate cellular osmoregulation and enhance cell survival to multiple physiological stresses.

Proc Natl Acad Sci U S A 2020 Nov 2;117(46):29155-29165. Epub 2020 Nov 2.

Department of Molecular, Cellular, and Developmental Biology, The University of Michigan, Ann Arbor, MI 48109-1085.

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http://dx.doi.org/10.1073/pnas.2016539117DOI Listing
November 2020

Hematopoietic Stem Cell Transplantation Is a Curative Therapy for Transferrin Receptor 1 (TFRC) Deficiency.

J Allergy Clin Immunol Pract 2020 Oct 20. Epub 2020 Oct 20.

Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait; Allergy and Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Kuwait City, Kuwait. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2020.10.018DOI Listing
October 2020

Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.

J Allergy Clin Immunol 2020 Sep 2. Epub 2020 Sep 2.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.

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http://dx.doi.org/10.1016/j.jaci.2020.08.022DOI Listing
September 2020

Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1.

J Allergy Clin Immunol 2020 11 25;146(5):1194-1200.e1. Epub 2020 Aug 25.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2020.07.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7445138PMC
November 2020

Acetaminophen Inhibits the Neutrophil Oxidative Burst: Implications for Diagnostic Testing.

J Allergy Clin Immunol Pract 2020 Nov - Dec;8(10):3543-3548. Epub 2020 Jul 21.

Boston Children's Hospital, Boston, Mass; Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2020.07.012DOI Listing
July 2020

ITK deficiency presenting as autoimmune lymphoproliferative syndrome.

J Allergy Clin Immunol 2020 Jul 4. Epub 2020 Jul 4.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2020.06.019DOI Listing
July 2020

Immunoglobulins in the treatment of COVID-19 infection: Proceed with caution!

Clin Immunol 2020 07 11;216:108459. Epub 2020 May 11.

Division of Immunology, Boston Children's Hospital, Boston, MA, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2020.108459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7211658PMC
July 2020

A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection.

J Clin Immunol 2020 05 11;40(4):665-669. Epub 2020 May 11.

Paediatric Allergy and Immunology Unit, Children's Hospital, Ain Shams University, Cairo, Egypt.

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http://dx.doi.org/10.1007/s10875-020-00783-wDOI Listing
May 2020

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

J Allergy Clin Immunol 2020 Oct 9;146(4):901-911. Epub 2020 Apr 9.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; CIBSS (Centre for Integrative Biological Signalling Studies), University of Freiburg, Freiburg, Germany; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital and University College London, London, United Kingdom; DZIF (German Center for Infection Research) Satellite Center Freiburg, Freiburg, Germany; Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.11.051DOI Listing
October 2020

Severe combined immunodeficiency caused by inositol-trisphosphate 3-kinase B (ITPKB) deficiency.

J Allergy Clin Immunol 2020 Jun 25;145(6):1696-1699.e6. Epub 2020 Jan 25.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2020.01.014DOI Listing
June 2020

Autoimmunity and immunodeficiency.

Curr Opin Rheumatol 2020 03;32(2):168-174

Division of Immunology, Department of Pediatrics Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1097/BOR.0000000000000688DOI Listing
March 2020

Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2.

Turk J Pediatr 2019 ;61(3):413-417

Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, USA.

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http://dx.doi.org/10.24953/turkjped.2019.03.014DOI Listing
July 2020

Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.

J Allergy Clin Immunol 2020 Jul 17;146(1):192-202. Epub 2019 Dec 17.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Pediatrics, Allergy and Immunology Section, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.jaci.2019.12.004DOI Listing
July 2020

Dysregulated actin dynamics in activated PI3Kδ syndrome.

Clin Immunol 2020 01 21;210:108311. Epub 2019 Nov 21.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.clim.2019.108311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6989370PMC
January 2020

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.

J Allergy Clin Immunol 2020 01 27;145(1):46-69. Epub 2019 Sep 27.

Departments of Pediatrics and Medicine, University of South Florida, St Petersburg, Fla; Division of Pediatric Allergy/Immunology, Johns Hopkins-All Children's Hospital, St Petersburg, Fla; Division of Pediatric Allergy Immunology, Massachusetts General Hospital, Boston, Mass.

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http://dx.doi.org/10.1016/j.jaci.2019.09.009DOI Listing
January 2020

A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation.

Clin Immunol 2019 10 10;207:40-42. Epub 2019 Jul 10.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2019.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736735PMC
October 2019

Combined immunodeficiency in a patient with c-Rel deficiency.

J Allergy Clin Immunol 2019 08 16;144(2):606-608.e4. Epub 2019 May 16.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688935PMC
August 2019

A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis.

J Allergy Clin Immunol 2019 08 15;144(2):611-613.e3. Epub 2019 May 15.

Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Mass. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749193062
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http://dx.doi.org/10.1016/j.jaci.2019.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688952PMC
August 2019

T-cell mitochondrial dysfunction and lymphopenia in DOCK2-deficient patients.

J Allergy Clin Immunol 2019 07 1;144(1):306-309.e2. Epub 2019 Mar 1.

Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.02.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612298PMC
July 2019

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Front Immunol 2018 15;9:3146. Epub 2019 Jan 15.

Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fimmu.2018.03146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340972PMC
October 2019

A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.

J Allergy Clin Immunol 2019 04 14;143(4):1649-1653.e3. Epub 2019 Jan 14.

Pediatrics Clinic and Institute of Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia and ASST Spedali Civili of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/j.jaci.2019.01.001DOI Listing
April 2019

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

J Allergy Clin Immunol 2018 12 4;142(6):1932-1946. Epub 2018 May 4.

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.02.055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215742PMC
December 2018

A young girl with severe cerebral fungal infection due to card 9 deficiency.

Clin Immunol 2018 06 4;191:21-26. Epub 2018 Jan 4.

Department of Pediatric Immunology, Hacettepe University Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.clim.2018.01.002DOI Listing
June 2018

Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.

Clin Immunol 2018 03 21;188:20-22. Epub 2017 Nov 21.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/j.clim.2017.11.008DOI Listing
March 2018

DOCK8 Deficiency Presenting as an IPEX-Like Disorder.

J Clin Immunol 2017 Nov 23;37(8):811-819. Epub 2017 Oct 23.

Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Karp Family Building, Room 10-214. 1 Blackfan Street, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10875-017-0451-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5691358PMC
November 2017

DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.

Clin Immunol 2018 02 16;187:68-75. Epub 2017 Oct 16.

Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.1016/j.clim.2017.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5826831PMC
February 2018

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Front Immunol 2017 10;8:1244. Epub 2017 Oct 10.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.01
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http://dx.doi.org/10.3389/fimmu.2017.01244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641412PMC
October 2017

A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis.

Clin Immunol 2017 10 14;183:198-200. Epub 2017 Sep 14.

Department of Allergy and immunology, Boston Children's Hospital, United States.

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http://dx.doi.org/10.1016/j.clim.2017.09.007DOI Listing
October 2017

Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

J Allergy Clin Immunol 2018 04 12;141(4):1450-1458. Epub 2017 Sep 12.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, and the University of Medical Science, Tehran, Iran; Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.06.049DOI Listing
April 2018

Advances in basic and clinical immunology in 2016.

J Allergy Clin Immunol 2017 Oct 19;140(4):959-973. Epub 2017 Aug 19.

Division of Immunology, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, Mass.

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http://dx.doi.org/10.1016/j.jaci.2017.07.023DOI Listing
October 2017

Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1.

Clin Immunol 2017 10 16;183:142-144. Epub 2017 Aug 16.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673555PMC
October 2017

Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.

Front Immunol 2017 24;8:847. Epub 2017 Jul 24.

Division of Immunology, Boston Children's Hospital, Boston, MA, United States.

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http://dx.doi.org/10.3389/fimmu.2017.00847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522848PMC
July 2017

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Front Immunol 2017 17;8:798. Epub 2017 Jul 17.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.00
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http://dx.doi.org/10.3389/fimmu.2017.00798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511964PMC
July 2017

Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature.

Clin Immunol 2017 10 17;183:201-206. Epub 2017 Jul 17.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2017.07.007DOI Listing
October 2017

Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation.

J Allergy Clin Immunol 2018 03 7;141(3):1050-1059.e10. Epub 2017 Jun 7.

Division of Immunology, Boston Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.05.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5743769PMC
March 2018

Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult.

J Allergy Clin Immunol 2017 01 24;139(1):372-375.e4. Epub 2016 Aug 24.

Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.07.024DOI Listing
January 2017

Mutations in pyrin masquerading as a primary immunodeficiency.

Clin Immunol 2016 Oct 15;171:65-66. Epub 2016 Aug 15.

Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.clim.2016.08.016DOI Listing
October 2016

Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1.

Clin Immunol 2016 05 6;166-167:100-2. Epub 2016 Apr 6.

Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.clim.2016.03.012DOI Listing
May 2016

Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation.

J Allergy Clin Immunol 2016 07 2;138(1):297-299. Epub 2016 Mar 2.

Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.12.1320DOI Listing
July 2016

Spectrum of Phenotypes Associated with Mutations in LRBA.

J Clin Immunol 2016 Jan 28;36(1):33-45. Epub 2015 Dec 28.

Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s10875-015-0224-7DOI Listing
January 2016

Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly.

J Allergy Clin Immunol 2016 Jan 10;137(1):324-327.e2. Epub 2015 Oct 10.

Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.08.025DOI Listing
January 2016

A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection.

Clin Immunol 2015 Dec 10;161(2):128-30. Epub 2015 Aug 10.

Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2015.08.003DOI Listing
December 2015

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

N Engl J Med 2015 Jun;372(25):2409-22

From the Division of Immunology (K.D., J.C., S.K., M.J.M., K.C., K.F., T.A.C., R.S.G., L.D.N.) and Manton Center for Orphan Disease Research (L.D.N.), Boston Children's Hospital, and Department of Molecular Biology, Massachusetts General Hospital (T.K.O.), Boston, Harvard Stem Cell Institute, Harvard University, Cambridge (L.D.N.), and Department of Pediatrics, University of Massachusetts Medical School, Worcester (A.M.C.) - all in Massachusetts; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (C.D.C., I.B., N.K.S., M.S., C.B., K.B.), Department of Pediatrics and Adolescent Medicine, Medical University of Vienna (K.B.), and CeRUD Vienna Center for Rare and Undiagnosed Diseases (K.B.) - all in Vienna; St. Giles Laboratory of Human Genetics of Infectious Disease, Rockefeller Branch, Rockefeller University (S.-Y.Z., M.A., S.O., B.B., Y.I., L.A., J.-L.C.), and Institute for Genomic Medicine, Columbia University (S. Petrovski, D.B.G.) - both in New York; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 (S.-Y.Z., V.P., L.A., J.-L.C.), Paris Descartes University, Sorbonne Paris Cité, Imagine Institute (S.-Y.Z., F.R., P.L., L.A., J.-L.C.), and Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children (J.-L.C.) - all in Paris; Howard Hughes Medical Institute, Chevy Chase, MD (J.-L.C.); Department of Molecular and Translational Medicine, University of Brescia, Brescia (S. Parolini, O.P., G.T.), and Department of Experimental Medicine and Center of Excellence for Biomedical Research, University of Genoa, Genoa (A.M.) - both in Italy; Folkhälsan Institute of Genetics and Research Programs Unit, Molecular Neurology (E.H.), Institute for Molecular Medicine Finland (J.S.), Children's Hospital (M.K.), Research Programs Unit, Diabetes and Obesity Research Program (M.K.), and Folkhälsan Research Center (M.K.), University of Helsinki and Helsinki University Central Hospital, Helsinki, Tampere Center

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http://dx.doi.org/10.1056/NEJMoa1413462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480434PMC
June 2015

A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.

J Allergy Clin Immunol 2015 Aug 9;136(2):479-482.e1. Epub 2015 Jun 9.

Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1016/j.jaci.2015.03.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530045PMC
August 2015

A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens.

J Allergy Clin Immunol 2015 Sep 10;136(3):794-797.e1. Epub 2015 Feb 10.

Division of Immunology, Boston Children's Hospital and the Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.12.1940DOI Listing
September 2015

A novel mutation in FOXN1 resulting in SCID: a case report and literature review.

Clin Immunol 2014 Nov 27;155(1):30-32. Epub 2014 Aug 27.

Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2014.08.005DOI Listing
November 2014

Lipid-lowering effects of curcumin in patients with metabolic syndrome: a randomized, double-blind, placebo-controlled trial.

Phytother Res 2014 Dec 6;28(12):1770-7. Epub 2014 Aug 6.

Division of Endocrinology and Metabolism, Department of Internal Medicine, Chung Shan Medical University Hospital, Taichung, Taiwan; Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.

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http://dx.doi.org/10.1002/ptr.5197DOI Listing
December 2014

Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.

J Allergy Clin Immunol 2014 Oct 27;134(4):983-5.e1. Epub 2014 Jun 27.

Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.04.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186892PMC
October 2014

A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity.

Clin Immunol 2014 Aug 17;153(2):288-91. Epub 2014 May 17.

Department of Pediatric Immunology, Ege University, Faculty of Medicine, Erzene Mh., 35040 Izmir, Turkey. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15216616140012
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http://dx.doi.org/10.1016/j.clim.2014.05.001DOI Listing
August 2014

Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function.

J Exp Med 2014 May 21;211(5):929-42. Epub 2014 Apr 21.

Division of Immunology and 2 Joint Program in Transfusion Medicine, Division of Laboratory Medicine, Boston Children's Hospital; and 3 Department of Pediatrics, 4 Department of Microbiology and Immunobiology, and 5 Department of Pathology, Harvard Medical School, Boston, MA 02115.

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http://dx.doi.org/10.1084/jem.20131379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4010910PMC
May 2014

Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency.

J Allergy Clin Immunol 2014 Jul 14;134(1):223-6. Epub 2014 Apr 14.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass.

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http://dx.doi.org/10.1016/j.jaci.2014.01.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4125425PMC
July 2014

Weight reduction effect of Puerh tea in male patients with metabolic syndrome.

Phytother Res 2014 Jul 7;28(7):1096-101. Epub 2014 Jan 7.

Institute of Medicine, Chung Shan Medical University, Chung Shan Medical University Hospital, Taichung, Taiwan.

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http://dx.doi.org/10.1002/ptr.5111DOI Listing
July 2014

Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies.

J Allergy Clin Immunol 2014 Aug 5;134(2):262-8. Epub 2013 Oct 5.

Division of Immunology and the Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.08.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976463PMC
August 2014

Orbital follicular hyperplasia in common variable immune deficiency syndrome.

Ophthalmic Plast Reconstr Surg 2013 Nov-Dec;29(6):e160-2

*Department of Ophthalmology, Massachusetts Eye and Ear Infirmary; †Department of Ophthalmology, Harvard Medical School; ‡Department of Ophthalmology, Boston Children's Hospital; §Department of Pathology, Boston Children's Hospital; ‖Department of Pathology, Harvard Medical School; ¶Department of Allergy/Immunology, Boston Children's Hospital; and #Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, U.S.A.

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May 2014

Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies.

Curr Opin Allergy Clin Immunol 2012 Dec;12(6):623-8

Division of Immunology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1097/ACI.0b013e3283588ca6DOI Listing
December 2012

Predictors of clinical success in a multidisciplinary model of atopic dermatitis treatment.

Allergy Asthma Proc 2011 Sep-Oct;32(5):377-83

Division of Immunology, Children's Hospital Boston, Massachusetts, 02115, USA.

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http://www.ingentaconnect.com/content/10.2500/aap.2011.32.34
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http://dx.doi.org/10.2500/aap.2011.32.3462DOI Listing
April 2012

ZAK negatively regulates RhoGDIbeta-induced Rac1-mediated hypertrophic growth and cell migration.

J Biomed Sci 2009 Jun 18;16:56. Epub 2009 Jun 18.

Graduate Institute of Chinese Medical Science, China Medical University, Taichung 404, Taiwan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703632PMC
June 2009

NOD2-associated diseases: Bridging innate immunity and autoinflammation.

Clin Immunol 2010 Mar 24;134(3):251-61. Epub 2009 May 24.

Children's Hospital Boston, MA 02115, USA.

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March 2010

RhoGDIbeta-induced hypertrophic growth in H9c2 cells is negatively regulated by ZAK.

J Biomed Sci 2009 Jan 22;16:11. Epub 2009 Jan 22.

Graduate Institute of Chinese Medical Science, China Medical University, Taichung 404, Taiwan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653512PMC
January 2009

Leukocyte-versus microparticle-mediated tissue factor transfer during arteriolar thrombus development.

J Leukoc Biol 2005 Dec 4;78(6):1318-26. Epub 2005 Oct 4.

Center for Hemostasis and Thrombosis Research, Beth Israel Deaconess Medical Center and Harvard Medical School, Medicine, 330 Brookline Avenue, Boston, MA 02215, USA.

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December 2005

Hematopoietic cell-derived microparticle tissue factor contributes to fibrin formation during thrombus propagation.

Blood 2004 Nov 27;104(10):3190-7. Epub 2004 Jul 27.

Center for Hemostasis and Thrombosis Research, Vascular Biology Center, 330 Brookline Ave, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2004-03-09
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November 2004

Accumulation of tissue factor into developing thrombi in vivo is dependent upon microparticle P-selectin glycoprotein ligand 1 and platelet P-selectin.

J Exp Med 2003 Jun;197(11):1585-98

Center for Hemostasis and Thrombosis Research, Research East 319, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA 02215, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2193915PMC
June 2003