Publications by authors named "Raif Geha"

100Publications

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

APRIL expression is upregulated in atopic dermatitis skin lesions and at sites of antigen driven allergic skin inflammation in mice.

Clin Immunol 2020 Oct 8;219:108556. Epub 2020 Aug 8.

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.2020.108556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7484409PMC
October 2020

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

J Allergy Clin Immunol Pract 2020 Jul 21. 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

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

ILC2 activation by keratinocyte-derived IL-25 drives IL-13 production at sites of allergic skin inflammation.

J Allergy Clin Immunol 2020 Jun 14;145(6):1606-1614.e4. Epub 2020 Mar 14.

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.2020.02.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7282942PMC
June 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

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

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

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

J Allergy Clin Immunol Pract 2019 Jul - Aug;7(6):1970-1985.e4. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612449PMC
September 2020

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

Primary immunodeficiencies caused by mutations in actin regulatory proteins.

Immunol Rev 2019 01;287(1):121-134

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

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http://dx.doi.org/10.1111/imr.12716DOI Listing
January 2019

Injury, dysbiosis, and filaggrin deficiency drive skin inflammation through keratinocyte IL-1α release.

J Allergy Clin Immunol 2019 04 19;143(4):1426-1443.e6. Epub 2018 Sep 19.

Department of Dermatology, Johns Hopkins University School of Medicine, Baltimore, Md; Department of Medicine, Division of Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, Md; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, Md; Department of Materials Science and Engineering, Johns Hopkins University, Baltimore, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.08.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424655PMC
April 2019

Defective TLR9-driven STAT3 activation in B cells of patients with CVID.

Clin Immunol 2018 12 23;197:40-44. Epub 2018 Aug 23.

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

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http://dx.doi.org/10.1016/j.clim.2018.08.008DOI Listing
December 2018

MyD88 signaling in T regulatory cells by endogenous ligands dampens skin inflammation in filaggrin deficient mice.

Clin Immunol 2018 10 9;195:88-92. Epub 2018 Aug 9.

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

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https://linkinghub.elsevier.com/retrieve/pii/S15216616183047
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http://dx.doi.org/10.1016/j.clim.2018.08.001DOI Listing
October 2018

The Lack of WIP Binding to Actin Results in Impaired B Cell Migration and Altered Humoral Immune Responses.

Cell Rep 2018 07;24(3):619-629

Lymphocyte Interaction Laboratory, Francis Crick Institute, London NW1 1AT, UK; Ragon Institute of MGH, MIT and Harvard, Cambridge, MA 02139, USA.

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http://dx.doi.org/10.1016/j.celrep.2018.06.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6077251PMC
July 2018

IL-22 promotes allergic airway inflammation in epicutaneously sensitized mice.

J Allergy Clin Immunol 2019 02 18;143(2):619-630.e7. Epub 2018 Jun 18.

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

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https://linkinghub.elsevier.com/retrieve/pii/S00916749183085
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http://dx.doi.org/10.1016/j.jaci.2018.05.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298864PMC
February 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

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

Staphylococcus aureus Epicutaneous Exposure Drives Skin Inflammation via IL-36-Mediated T Cell Responses.

Cell Host Microbe 2017 Nov;22(5):653-666.e5

Department of Dermatology, Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA; Department of Medicine, Division of Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA; Department of Materials Science and Engineering, Johns Hopkins University, Baltimore, MD 21218, USA. Electronic address:

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http://dx.doi.org/10.1016/j.chom.2017.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774218PMC
November 2017

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

DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs.

JCI Insight 2017 10 5;2(19). Epub 2017 Oct 5.

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

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http://dx.doi.org/10.1172/jci.insight.94298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841868PMC
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

Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site.

J Allergy Clin Immunol 2017 07 10;140(1):268-271.e6. Epub 2016 Dec 10.

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.2016.09.057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5466846PMC
July 2017

Staphylococcus aureus Exploits Epidermal Barrier Defects in Atopic Dermatitis to Trigger Cytokine Expression.

J Invest Dermatol 2016 11 2;136(11):2192-2200. Epub 2016 Jul 2.

Department of Dermatology, University of California-San Diego, California, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.05.127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103312PMC
November 2016

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

IL-22 derived from γδ T cells restricts Staphylococcus aureus infection of mechanically injured skin.

J Allergy Clin Immunol 2016 10 15;138(4):1098-1107.e3. Epub 2016 Jul 15.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056816PMC
http://dx.doi.org/10.1016/j.jaci.2016.07.001DOI Listing
October 2016

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

IL-33 promotes food anaphylaxis in epicutaneously sensitized mice by targeting mast cells.

J Allergy Clin Immunol 2016 11 2;138(5):1356-1366. Epub 2016 Jun 2.

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

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http://dx.doi.org/10.1016/j.jaci.2016.03.056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099088PMC
November 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

Thymic stromal lymphopoietin and IL-33 promote skin inflammation and vaccinia virus replication in a mouse model of atopic dermatitis.

J Allergy Clin Immunol 2016 07 29;138(1):283-286. Epub 2016 Jan 29.

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

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http://dx.doi.org/10.1016/j.jaci.2015.12.1304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931957PMC
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

TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.

J Allergy Clin Immunol 2015 Nov 19;136(5):1315-25. Epub 2015 Jun 19.

Department of Immunobiology, Yale University School of Medicine, New Haven, Conn; Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.05.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641026PMC
November 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

The Rho GTPase Cdc42 Is Essential for the Activation and Function of Mature B Cells.

J Immunol 2015 May 13;194(10):4750-8. Epub 2015 Apr 13.

Department of Molecular Biosciences, Wenner-Gren Institute, Stockholm University, SE-106 91 Stockholm, Sweden;

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http://dx.doi.org/10.4049/jimmunol.1401634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416737PMC
May 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