M. Massaad

发表

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

F. Alt, M. Vihinen, L. Notarangelo, 2013, The Journal of allergy and clinical immunology.

DOCK8 Functions as an Adaptor that Links TLR–MyD88 Signaling to B Cell Activation

Schneider, Douglas R. McDonald, Ghassan, 2012 .

DOCK 8 functions as an adaptor that links Toll-like receptor – MyD 88 signaling to B cell activation

Douglas R. McDonald, L. Notarangelo, A. Plebani, 2012 .

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.

Toshiro K. Ohsumi, R. Geha, J. Chou, 2016, The Journal of allergy and clinical immunology.

B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.

J. Hartwig, L. Notarangelo, J. Walter, 2012, Blood.

Latrogenic major bile duct injuries injury

M. Massaad, A. Majid, Mam Ibnouf, 2008 .

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

M. Massaad, G. Dbaibo, M. Abboud, 2020, Clinical immunology.

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

R. Geha, M. Massaad, Marisa A. P. Baptista, 2015 .

Binding of WIP to Actin Is Essential for T Cell Actin Cytoskeleton Integrity and Tissue Homing

F. Luscinskas, J. Hartwig, R. Geha, 2014, Molecular and Cellular Biology.

Wiskott‐Aldrich syndrome: a comprehensive review

R. Geha, M. Massaad, N. Ramesh, 2013, Annals of the New York Academy of Sciences.

The processing alpha1,2-mannosidase of Saccharomyces cerevisiae depends on Rer1p for its localization in the endoplasmic reticulum.

M. Massaad, A. Herscovics, A. Franzusoff, 1999, European journal of cell biology.

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

R. Geha, T. Chatila, M. Massaad, 2014, Clinical immunology.

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.

A. Schäffer, V. Lougaris, R. Geha, 2015, The Journal of allergy and clinical immunology.

Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency.

Douglas R. McDonald, R. Geha, W. Al-Herz, 2014, The Journal of allergy and clinical immunology.

Immune deficiencies , infection , and systemic immune disorders T-cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation

R. Geha, M. Massaad, C. Looi, 2022 .

A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton.

D. Irvine, Hao Wu, F. Luscinskas, 2016, The Journal of clinical investigation.

Challenges in glioblastoma immunotherapy: mechanisms of resistance and therapeutic approaches to overcome them

M. Massaad, R. Sawaya, Rana Mansour, 2022, British Journal of Cancer.

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.

Toshiro K. Ohsumi, R. Geha, J. Chou, 2013, The Journal of allergy and clinical immunology.

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

R. Geha, M. Massaad, J. Manis, 2015, The Journal of experimental medicine.

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

L. Notarangelo, R. Geha, W. Al-Herz, 2012, Clinical immunology.

Hematopoietic Stem Cell Transplantation Outcomes for 11 Patients with Dedicator of Cytokinesis 8 (DOCK8) Deficiency

L. Notarangelo, J. Chou, W. Al-Herz, 2017 .

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

L. Notarangelo, R. Geha, J. Chou, 2016, The Journal of allergy and clinical immunology.

Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency.

Douglas R. McDonald, L. Notarangelo, R. Geha, 2016, The Journal of allergy and clinical immunology.

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

L. Notarangelo, A. Plebani, R. Geha, 2012, The Journal of experimental medicine.

Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.

J. Orange, R. Geha, J. Chou, 2021, The Journal of clinical investigation.

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

Toshiro K. Ohsumi, N. Andrews, M. Fleming, 2015, Nature Genetics.

Mutations in pyrin masquerading as a primary immunodeficiency.

R. Geha, J. Chou, M. Massaad, 2016, Clinical immunology.

Wiskott-Aldrich Syndrome Protein-Interacting Protein (WIP) Deficiency

M. Massaad, 2018, Encyclopedia of Medical Immunology.

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding.

L. Notarangelo, R. Geha, W. Al-Herz, 2011, The Journal of allergy and clinical immunology.

A WIP peptide restores WASP levels and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding

L. Notarangelo, R. Geha, W. Al-Herz, 2011 .

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

J. Hartwig, R. Geha, M. Massaad, 2009, Blood.

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

R. Geha, M. Massaad, N. Ramesh, 2007, Biochemical and biophysical research communications.

Cdc42 interacting protein 4 (CIP4) is essential for integrin-dependent T-cell trafficking

F. Luscinskas, R. Geha, M. Massaad, 2010, Proceedings of the National Academy of Sciences.

A novel homozygous mutation in Recombination Activating Gene 2 in two relatives with different clinical phenotypes: Omenn syndrome and Hyper-IgM syndrome

L. Notarangelo, Yu Nee Lee, R. Geha, 2012 .

compartment in mice (WASp) causes severe abnormalities of the peripheral B-cell intrinsic deficiency of the Wiskott-Aldrich syndrome protein - B cell

J. Hartwig, F. Frugoni, M. Massaad, 2012 .

Defective nuclear translocation of nuclear factor of activated T cells and extracellular signal-regulated kinase underlies deficient IL-2 gene expression in Wiskott-Aldrich syndrome.

R. Geha, M. Massaad, S. Feske, 2005, The Journal of allergy and clinical immunology.

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

Michael Seleman, R. Geha, J. Chou, 2017, Clinical immunology.

Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.

L. Notarangelo, J. Walter, R. Geha, 2013, Clinical immunology.

Spectrum of Phenotypes Associated with Mutations in LRBA

R. Geha, J. Chou, M. Massaad, 2015, Journal of Clinical Immunology.

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

L. Notarangelo, R. Geha, J. Chou, 2019, Front. Immunol..

Inherited human IFNγ deficiency underlies mycobacterial disease.

J. Casanova, R. Geha, W. Al-Herz, 2020, The Journal of clinical investigation.

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

R. Geha, J. Chou, M. Massaad, 2014, Clinical immunology.

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

R. Geha, J. Chou, M. Massaad, 2016, The Journal of allergy and clinical immunology.

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

Toshiro K. Ohsumi, D. Goldstein, M. Knip, 2015, The New England journal of medicine.

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

M. Afarideh, A. Ghajar, R. Geha, 2017, The Journal of allergy and clinical immunology.

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

R. Geha, J. Chou, M. Massaad, 2016, Clinical immunology.

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.

R. Geha, M. Massaad, F. Alkuraya, 2012, The Journal of allergy and clinical immunology.

The Yeast Split-Ubiquitin Membrane Protein Two-Hybrid Screen Identifies BAP31 as a Regulator of the Turnover of Endoplasmic Reticulum-Associated Protein Tyrosine Phosphatase-Like B

J. Pelletier, M. Massaad, A. Herscovics, 2004, Molecular and Cellular Biology.

Binding of the WASP/N-WASP-Interacting Protein WIP to Actin Regulates Focal Adhesion Assembly and Adhesion

M. Bhasin, T. Libermann, R. Geha, 2014, Molecular and Cellular Biology.

Combined immunodeficiency in a patient with c-Rel deficiency.

R. Geha, J. Chou, W. Al-Herz, 2019, The Journal of allergy and clinical immunology.

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

L. Notarangelo, J. Walter, V. Lougaris, 2017, Front. Immunol..

WIP is critical for T cell responsiveness to IL-2

J. Hartwig, R. Geha, M. Massaad, 2009, Proceedings of the National Academy of Sciences.

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

L. Notarangelo, R. Geha, J. Chou, 2012, The Journal of allergy and clinical immunology.

Dock8 Functions as an Adaptor That Links Toll-like Receptor– Myd88 Signaling to B Cell Activation Hhs Public Access

Alessandro Plebani, Rima Wakim, Kate Fitzgerald, 2022 .

Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.

M. Massaad, R. Farid, S. Meshaal, 2015, Clinical immunology.

Spectrum of Phenotypes Associated with Mutations in LRBA

R. Geha, J. Chou, M. Massaad, 2015, Journal of Clinical Immunology.

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

R. Geha, M. Massaad, Craig D. Platt, 2017, The Journal of allergy and clinical immunology.

JAK3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site

Birgitta, R. Geha, M. Massaad, 2017 .

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

Toshiro K. Ohsumi, J. Orange, L. Notarangelo, 2014, The Journal of allergy and clinical immunology.

Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.

Toshiro K. Ohsumi, L. Notarangelo, R. Geha, 2016, The Journal of clinical investigation.

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

L. Notarangelo, R. Geha, J. Chou, 2017, Clinical Immunology.

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

R. Hoyos-Bachiloglu, R. Geha, J. Chou, 2019, The Journal of allergy and clinical immunology.

Mechanisms of genotype‐phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

J. Casanova, R. Geha, H. Kanegane, 2017, The Journal of allergy and clinical immunology.

disease and greater impairment of NF-κB activation in IκBa point mutants versus truncation mutants in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

J. Casanova, R. Geha, H. Kanegane, 2017 .

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.

Toshiro K. Ohsumi, R. Geha, J. Chou, 2015, The Journal of allergy and clinical immunology.

Combined immunodeficiency in a patient with deficiency of c-Rel

R. Geha, J. Chou, W. Al-Herz, 2019 .

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

R. Geha, J. Chou, W. Al-Herz, 2015, The Journal of allergy and clinical immunology.

Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7Rα Chain

M. Massaad, M. Abboud, N. Kabbara, 2022, Frontiers in Immunology.

DOCK8 Deficiency Presenting as an IPEX-Like Disorder

R. Geha, J. Chou, T. Chatila, 2017, Journal of Clinical Immunology.

DOCK8 and STAT3 dependent inhibition of IgE isotype switching by TLR9 ligation in human B cells.

R. Geha, W. Al-Herz, T. Chatila, 2017, Clinical immunology.

Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency.

Douglas R. McDonald, R. Geha, T. Chatila, 2010, The Journal of allergy and clinical immunology.

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

R. Geha, M. Massaad, A. Bruckbauer, 2018, Cell reports.

Interaction of the endoplasmic reticulum alpha 1,2-mannosidase Mns1p with Rer1p using the split-ubiquitin system.

M. Massaad, A. Herscovics, 2001, Journal of cell science.

Severe Allergic Dysregulation Due to A Gain of Function Mutation in the Transcription Factor STAT6.

T. Chatila, M. Massaad, Mehdi Benamar, 2023, The Journal of allergy and clinical immunology.

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

R. Geha, J. Chou, M. Massaad, 2017, The Journal of allergy and clinical immunology.

Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan.

R. Geha, J. Chou, M. Massaad, 2019, Clinical immunology.

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

L. Notarangelo, M. Massaad, Ioanna A. Rota, 2017, Blood advances.

DOCK8 Deficiency Presenting as an IPEX-Like Disorder

R. Geha, J. Chou, T. Chatila, 2017, Journal of Clinical Immunology.

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

W. Al-Herz, M. Massaad, Mohammad Zainal, 2020, Frontiers in Immunology.

Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA

J. Hadfield, R. Geha, M. Massaad, 2017, Journal of Clinical Immunology.

The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity.

R. Geha, A. Bousfiha, W. Al-Herz, 2022, The journal of allergy and clinical immunology. In practice.

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

R. Geha, J. Chou, M. Massaad, 2014, Clinical immunology.

Wiskott-Aldrich Syndrome Deficiency

M. Massaad, 2018, Encyclopedia of Medical Immunology.

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

L. Notarangelo, J. Walter, V. Lougaris, 2017, Front. Immunol..

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

L. Notarangelo, A. Plebani, R. Geha, 2012, The Journal of Experimental Medicine.

Regulatory T Cell Deficiency and Immune dysregulation, Polyendocrinopathy, Enteropathy, X-Linked-Like Disorder Due to Loss of Function Mutations in LRBA

R. Geha, J. Chou, M. Massaad, 2015 .

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

F. Alt, M. Vihinen, L. Notarangelo, 2013, The Journal of allergy and clinical immunology.

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

J. Hartwig, R. Geha, M. Massaad, 2009, Blood.

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

R. Geha, M. Massaad, J. Manis, 2015, The Journal of experimental medicine.

Innate and Adaptive Immune Responses Depend on the Activation of Nf-b, Which Has Five

R. Geha, M. Massaad, J. Manis, 2022 .

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

R. Geha, T. Chatila, M. Massaad, 2014, Clinical immunology.

DOCK8 functions as an adaptor that links Toll-like receptor–MyD88 signaling to B cell activation

Douglas R. McDonald, L. Notarangelo, A. Plebani, 2012, Nature Immunology.

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.

Toshiro K. Ohsumi, R. Geha, J. Chou, 2013, The Journal of allergy and clinical immunology.

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

A. Plebani, R. Geha, S. Giliani, 2012 .

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

A. Plebani, R. Geha, S. Giliani, 2012, The Journal of experimental medicine.

This information is current as Activation and Function of Mature B Cells The Rho GTPase Cdc 42 Is Essential for the Westerberg and

R. Geha, M. Massaad, Marisa A. P. Baptista, 2015 .

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

L. Notarangelo, R. Geha, J. Chou, 2016, The Journal of allergy and clinical immunology.