Wiskott‐Aldrich syndrome: a comprehensive review MJ Massaad, N Ramesh, RS Geha Annals of the New York Academy of Sciences 1285 (1), 26-43, 2013 | 415 | 2013 |
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency A Alangari, A Alsultan, N Adly, MJ Massaad, IS Kiani, A Aljebreen, ... Journal of Allergy and Clinical Immunology 130 (2), 481-488. e2, 2012 | 278 | 2012 |
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA LM Charbonnier, E Janssen, J Chou, TK Ohsumi, S Keles, JT Hsu, ... Journal of Allergy and Clinical Immunology 135 (1), 217-227. e9, 2015 | 274 | 2015 |
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation HH Jabara, DR McDonald, E Janssen, MJ Massaad, N Ramesh, ... Nature immunology 13 (6), 612-620, 2012 | 241 | 2012 |
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency HH Jabara, SE Boyden, J Chou, N Ramesh, MJ Massaad, H Benson, ... Nature genetics 48 (1), 74-78, 2016 | 229 | 2016 |
Spectrum of Phenotypes Associated with Mutations in LRBA OK Alkhairy, H Abolhassani, N Rezaei, M Fang, KK Andersen, ... Journal of clinical immunology 36, 33-45, 2016 | 210 | 2016 |
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP G Lanzi, D Moratto, D Vairo, S Masneri, O Delmonte, T Paganini, ... Journal of Experimental Medicine 209 (1), 29-34, 2012 | 203 | 2012 |
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency KR Engelhardt, ME Gertz, S Keles, AA Schäffer, EC Sigmund, C Glocker, ... Journal of Allergy and Clinical Immunology 136 (2), 402-412, 2015 | 195 | 2015 |
Inherited DOCK2 deficiency in patients with early-onset invasive infections K Dobbs, C Domínguez Conde, SY Zhang, S Parolini, M Audry, J Chou, ... New England Journal of Medicine 372 (25), 2409-2422, 2015 | 191 | 2015 |
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency HH Jabara, T Ohsumi, J Chou, MJ Massaad, H Benson, A Megarbane, ... Journal of allergy and clinical immunology 132 (1), 151-158, 2013 | 154 | 2013 |
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency YN Lee, F Frugoni, K Dobbs, JE Walter, S Giliani, AR Gennery, W Al-Herz, ... Journal of allergy and clinical immunology 133 (4), 1099-1108. e12, 2014 | 147 | 2014 |
B cell–intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice M Recher, SO Burns, MA de la Fuente, S Volpi, C Dahlberg, JE Walter, ... Blood, The Journal of the American Society of Hematology 119 (12), 2819-2828, 2012 | 132 | 2012 |
Inherited human IFN-γ deficiency underlies mycobacterial disease G Kerner, J Rosain, A Guérin, A Al-Khabaz, C Oleaga-Quintas, ... The Journal of clinical investigation 130 (6), 3158-3171, 2020 | 111 | 2020 |
A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton E Janssen, M Tohme, M Hedayat, M Leick, S Kumari, N Ramesh, ... The Journal of clinical investigation 126 (10), 3837-3851, 2016 | 109 | 2016 |
Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency H Abolhassani, J Chou, W Bainter, CD Platt, M Tavassoli, T Momen, ... Journal of Allergy and Clinical Immunology 141 (4), 1450-1458, 2018 | 100 | 2018 |
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity MJ Massaad, J Zhou, D Tsuchimoto, J Chou, H Jabara, E Janssen, ... The Journal of Clinical Investigation 126 (11), 4219-4236, 2016 | 78 | 2016 |
Defective nuclear translocation of nuclear factor of activated T cells and extracellular signal-regulated kinase underlies deficient IL-2 gene expression in Wiskott-Aldrich … A Cianferoni, M Massaad, S Feske, MA de la Fuente, L Gallego, ... Journal of allergy and clinical immunology 116 (6), 1364-1371, 2005 | 77 | 2005 |
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 B Wang, J Pelletier, MJ Massaad, A Herscovics, GC Shore Molecular and cellular biology, 2004 | 75 | 2004 |
Successful engraftment of donor marrow following allogeneic hematopoietic cell transplantation in autosomal recessive Hyper IgE syndrome due to DOCK8 deficiency DR McDonald, MJ Massaad, A Johnston, S Keles, T Chatila, RS Geha, ... The Journal of allergy and clinical immunology 126 (6), 1304, 2010 | 73 | 2010 |
Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait W Al-Herz, R Ragupathy, MJ Massaad, A Nanda, KR Engelhardt, ... Clinical immunology 143 (3), 266-272, 2012 | 72 | 2012 |