Michel J. Massaad
A5068989435- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Cellular Mechanics and Interactions
- Cell Adhesion Molecules Research
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- NF-κB Signaling Pathways
- Cystic Fibrosis Research Advances
- Parvovirus B19 Infection Studies
- Immune Response and Inflammation
- CAR-T cell therapy research
- interferon and immune responses
- Chronic Lymphocytic Leukemia Research
- IL-33, ST2, and ILC Pathways
- Platelet Disorders and Treatments
- Glycosylation and Glycoproteins Research
- Immunotherapy and Immune Responses
- Mycobacterium research and diagnosis
- Diabetes and associated disorders
- Digestive system and related health
- Genomics and Rare Diseases
- Cytokine Signaling Pathways and Interactions
- Microfluidic and Bio-sensing Technologies
- Endoplasmic Reticulum Stress and Disease
- Peptidase Inhibition and Analysis
American University of Beirut
2018-2025
American University of Beirut Medical Center
2020-2023
Boston Children's Hospital
2013-2022
Harvard University
2013-2022
Boston Children's Museum
2009-2015
Institute for Transfusion Medicine
2015
Pediatrics and Genetics
2015
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
2012-2013
British School at Rome
2013
AO Foundation
2013
Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity in which the T cells that present quantitatively or functionally deficient. Impaired humoral is also common. Patients have severe infections, autoimmunity, both. The specific molecular, cellular, and clinical features many types combined remain unknown. Methods We performed genetic cellular immunologic studies involving five unrelated children with early-onset invasive bacterial viral lymphopenia, defective...
A female offspring of consanguineous parents, showed features Wiskott-Aldrich syndrome (WAS), including recurrent infections, eczema, thrombocytopenia, defective T cell proliferation and chemotaxis, impaired natural killer function. Cells from this patient had undetectable WAS protein (WASP), but normal sequence messenger RNA levels. WASP interacting (WIP), which stabilizes WASP, was also undetectable. homozygous c.1301C>G stop codon mutation found in the WIPF1 gene, encodes WIP....
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by a selective predisposition clinical caused the Bacille Calmette-Guérin (BCG) vaccine and environmental mycobacteria. The known genetic etiologies of MSMD are inborn errors IFN-γ immunity due mutations 15 genes controlling production or response IFN-γ. Since first MSMD-causing were reported in 1996, biallelic encoding receptor 1 (IFN-γR1) IFN-γR2 have been many patients diverse ancestries. Surprisingly, gene cytokine...
Wiskott-Aldrich syndrome (WAS) is associated with mutations in the WAS protein (WASp), which plays a critical role initiation of T cell receptor-driven (TCR-driven) actin polymerization. The clinical phenotype includes susceptibility to infection, allergy, autoimmunity, and malignancy overlaps symptoms dedicator cytokinesis 8 (DOCK8) deficiency, suggesting that 2 syndromes share common pathogenic mechanisms. Here, we demonstrated WASp-interacting (WIP) bridges DOCK8 WASp cells. We determined...
Alterations in the apoptosis of immune cells have been associated with autoimmunity. Here, we identified a homozygous missense mutation gene encoding base excision repair enzyme Nei endonuclease VIII-like 3 (NEIL3) that abolished enzymatic activity siblings from consanguineous family. The NEIL3 was fatal recurrent infections, severe autoimmunity, hypogammaglobulinemia, and impaired B cell function these individuals. same also an asymptomatic individual who exhibited elevated levels serum...
Objective: To present the genetic causes of patients with primary immune deficiencies (PIDs) in Kuwait between 2004 and 2017. Methods: The data was obtained from National Primary Immunodeficiency Disorders Registry. Genomic DNA clinical immunological features PID sequenced using Sanger sequencing (SS), next generation (NGS) targeted genes, whole exome (WES), and/or genome (WGS). Functional assays were utilized to assess biologic effect identified variants. Fluorescence situ hybridization...