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Inherited human IFN-γ deficiency underlies mycobacterial disease.
Kerner G, Rosain J, Guérin A, Al-Khabaz A, Oleaga-Quintas C, Rapaport F, Massaad MJ, Ding JY, Khan T, Ali FA, Rahman M, Deswarte C, Martinez-Barricarte R, Geha RS, Jeanne-Julien V, Garcia D, Chi CY, Yang R, Roynard M, Fleckenstein B, Rozenberg F, Boisson-Dupuis S, Ku CL, Seeleuthner Y, Béziat V, Marr N, Abel L, Al-Herz W, Casanova JL, Bustamante J. Kerner G, et al. Among authors: massaad mj. J Clin Invest. 2020 Jun 1;130(6):3158-3171. doi: 10.1172/JCI135460. J Clin Invest. 2020. PMID: 32163377 Free PMC article.
WIP is critical for T cell responsiveness to IL-2.
Le Bras S, Massaad M, Koduru S, Kumar L, Oyoshi MK, Hartwig J, Geha RS. Le Bras S, et al. Proc Natl Acad Sci U S A. 2009 May 5;106(18):7519-24. doi: 10.1073/pnas.0806410106. Epub 2009 Apr 9. Proc Natl Acad Sci U S A. 2009. PMID: 19359486 Free PMC article.
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.
Massaad MJ, Ramesh N, Le Bras S, Giliani S, Notarangelo LD, Al-Herz W, Notarangelo LD, Geha RS. Massaad MJ, et al. J Allergy Clin Immunol. 2011 Apr;127(4):998-1005.e1-2. doi: 10.1016/j.jaci.2011.01.015. Epub 2011 Mar 3. J Allergy Clin Immunol. 2011. PMID: 21376381 Free PMC article.
Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.
Al-Herz W, Ragupathy R, Massaad MJ, Al-Attiyah R, Nanda A, Engelhardt KR, Grimbacher B, Notarangelo L, Chatila T, Geha RS. Al-Herz W, et al. Among authors: massaad mj. Clin Immunol. 2012 Jun;143(3):266-72. doi: 10.1016/j.clim.2012.03.002. Epub 2012 Mar 30. Clin Immunol. 2012. PMID: 22534316 Free PMC article.
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
Jabara HH, McDonald DR, Janssen E, Massaad MJ, Ramesh N, Borzutzky A, Rauter I, Benson H, Schneider L, Baxi S, Recher M, Notarangelo LD, Wakim R, Dbaibo G, Dasouki M, Al-Herz W, Barlan I, Baris S, Kutukculer N, Ochs HD, Plebani A, Kanariou M, Lefranc G, Reisli I, Fitzgerald KA, Golenbock D, Manis J, Keles S, Ceja R, Chatila TA, Geha RS. Jabara HH, et al. Among authors: massaad mj. Nat Immunol. 2012 May 13;13(6):612-20. doi: 10.1038/ni.2305. Nat Immunol. 2012. PMID: 22581261 Free PMC article.
Wiskott-Aldrich syndrome: a comprehensive review.
Massaad MJ, Ramesh N, Geha RS. Massaad MJ, et al. Ann N Y Acad Sci. 2013 May;1285:26-43. doi: 10.1111/nyas.12049. Epub 2013 Mar 25. Ann N Y Acad Sci. 2013. PMID: 23527602 Review.
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.
Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, Chouery E, Mikhael R, Gorka O, Gewies A, Portales P, Nakayama T, Hosokawa H, Revy P, Herrod H, Le Deist F, Lefranc G, Ruland J, Geha RS. Jabara HH, et al. Among authors: massaad mj. J Allergy Clin Immunol. 2013 Jul;132(1):151-8. doi: 10.1016/j.jaci.2013.04.047. Epub 2013 May 31. J Allergy Clin Immunol. 2013. PMID: 23727036 Free PMC article.
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD. Lee YN, et al. Among authors: massaad mj. J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28. J Allergy Clin Immunol. 2014. PMID: 24290284 Free PMC article.
73 results