Publications by authors named "Michel Massaad"

63Publications

Wiskott-Aldrich Syndrome in four male siblings from a consanguineous family from Lebanon.

Clin Immunol 2020 Oct 16;219:108573. Epub 2020 Aug 16.

Department of Experimental Pathology, Immunology, and Microbiology, Faculty of Medicine, American University of Beirut, Beirut, Lebanon; Division of Pediatric Infectious Diseases, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon; Center for Infectious Diseases Research, American University of Beirut, Beirut, Lebanon. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2020.108573DOI Listing
October 2020

Frequency and Manifestations of Autoimmunity Among Children Registered in the Kuwait National Primary Immunodeficiency Registry.

Front Immunol 2020 2;11:1119. Epub 2020 Jun 2.

Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.

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http://dx.doi.org/10.3389/fimmu.2020.01119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7280554PMC
June 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

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

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

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

Cadherin 17 mutation associated with leaky severe combined immune deficiency is corrected by HSCT.

Blood Adv 2017 Oct 23;1(23):2083-2087. Epub 2017 Oct 23.

Division of Blood and Marrow Transplant, Department of Pediatrics, University of Minnesota, Minneapolis, MN.

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http://dx.doi.org/10.1182/bloodadvances.2017010926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728290PMC
October 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

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

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

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

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

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

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

Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.

J Exp Med 2015 Feb 19;212(2):185-202. Epub 2015 Jan 19.

Division of Allergy and Immunology and Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, MA 02115 Department of Pediatrics, Division of Transfusion Medicine, and Department of Pathology, Harvard Medical School, Boston, MA 02115

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http://dx.doi.org/10.1084/jem.20140979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322042PMC
February 2015

Binding of WIP to actin is essential for T cell actin cytoskeleton integrity and tissue homing.

Mol Cell Biol 2014 Dec 22;34(23):4343-54. Epub 2014 Sep 22.

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

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http://dx.doi.org/10.1128/MCB.00533-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248745PMC
December 2014

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

Clin Immunol 2014 Nov 27;155(1):30-2. 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

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

Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency.

Clin Immunol 2014 Jul 15;153(1):104-108. Epub 2014 Apr 15.

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

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http://dx.doi.org/10.1016/j.clim.2014.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112510PMC
July 2014

T-cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation.

J Allergy Clin Immunol 2013 Sep 16;132(3):648-655.e1. Epub 2013 May 16.

Department of Pediatrics, Tohoku University Graduate School of Medicine, Miyagi, Japan.

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http://dx.doi.org/10.1016/j.jaci.2013.03.046DOI Listing
September 2013

Wiskott-Aldrich syndrome: a comprehensive review.

Ann N Y Acad Sci 2013 May 25;1285:26-43. Epub 2013 Mar 25.

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

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http://dx.doi.org/10.1111/nyas.12049DOI Listing
May 2013

Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.

Clin Immunol 2013 Feb 7;146(2):84-9. Epub 2012 Dec 7.

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.2012.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742382PMC
February 2013

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

Clin Immunol 2012 Jun 30;143(3):266-72. Epub 2012 Mar 30.

Department of Pediatrics, Faculty of Medicine, Kuwait University, and Allergy & Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Safat, Kuwait.

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https://linkinghub.elsevier.com/retrieve/pii/S15216616120008
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http://dx.doi.org/10.1016/j.clim.2012.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893030PMC
June 2012

Platelet-associated IgAs and impaired GPVI responses in platelets lacking WIP.

Blood 2009 Nov 19;114(21):4729-37. Epub 2009 Aug 19.

Division of Translational Medicine, Brigham and Women's Hospital, One Blackfan Cir, Karp 6, Boston, MA02115, USA.

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http://dx.doi.org/10.1182/blood-2009-02-202721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780308PMC
November 2009

WIP is critical for T cell responsiveness to IL-2.

Proc Natl Acad Sci U S A 2009 May 9;106(18):7519-24. Epub 2009 Apr 9.

Division of Immunology, Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1073/pnas.0806410106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2678629PMC
May 2009

A novel anti-WIP monoclonal antibody detects an isoform of WIP that lacks the WASP binding domain.

Biochem Biophys Res Commun 2007 Feb 20;353(4):875-81. Epub 2006 Dec 20.

Division of Immunology, Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.bbrc.2006.12.079DOI Listing
February 2007