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LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.
Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, Raddaoui E, Almomen AK, Al-Muhsen S, Geha RS, Alkuraya FS. Alangari A, et al. Among authors: geha rs. J Allergy Clin Immunol. 2012 Aug;130(2):481-8.e2. doi: 10.1016/j.jaci.2012.05.043. Epub 2012 Jun 19. J Allergy Clin Immunol. 2012. PMID: 22721650 Free PMC article.
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.
Charbonnier LM, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, Massaad MJ, Garcia-Lloret M, Hanna-Wakim R, Dbaibo G, Alangari AA, Alsultan A, Al-Zahrani D, Geha RS, Chatila TA. Charbonnier LM, et al. Among authors: geha rs. J Allergy Clin Immunol. 2015 Jan;135(1):217-27. doi: 10.1016/j.jaci.2014.10.019. Epub 2014 Nov 17. J Allergy Clin Immunol. 2015. PMID: 25468195 Free PMC article.
Spectrum of Phenotypes Associated with Mutations in LRBA.
Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, Mohammadzadeh I, El-Rajab MA, Massaad M, Chou J, Aghamohammadi A, Geha RS, Hammarström L. Alkhairy OK, et al. Among authors: geha rs. J Clin Immunol. 2016 Jan;36(1):33-45. doi: 10.1007/s10875-015-0224-7. Epub 2015 Dec 28. J Clin Immunol. 2016. PMID: 26707784 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: geha rs. 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.
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.
Yee CS, Massaad MJ, Bainter W, Ohsumi TK, Föger N, Chan AC, Akarsu NA, Aytekin C, Ayvaz DÇ, Tezcan I, Sanal Ö, Geha RS, Chou J. Yee CS, et al. Among authors: geha rs. J Allergy Clin Immunol. 2016 Mar;137(3):879-88.e2. doi: 10.1016/j.jaci.2015.08.020. Epub 2015 Oct 21. J Allergy Clin Immunol. 2016. PMID: 26476480 Free PMC article.
Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation.
Alroqi FJ, Charbonnier LM, Baris S, Kiykim A, Chou J, Platt CD, Algassim A, Keles S, Al Saud BK, Alkuraya FS, Jordan M, Geha RS, Chatila TA. Alroqi FJ, et al. Among authors: geha rs. J Allergy Clin Immunol. 2018 Mar;141(3):1050-1059.e10. doi: 10.1016/j.jaci.2017.05.022. Epub 2017 Jun 7. J Allergy Clin Immunol. 2018. PMID: 28601686 Free PMC article. Clinical Trial.
Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.
Abolhassani H, Chou J, Bainter W, Platt CD, Tavassoli M, Momen T, Tavakol M, Eslamian MH, Gharagozlou M, Movahedi M, Ghadami M, Hamidieh AA, Azizi G, Yazdani R, Afarideh M, Ghajar A, Havaei A, Chavoshzadeh Z, Mahdaviani SA, Cheraghi T, Behniafard N, Amin R, Aleyasin S, Faridhosseini R, Jabbari-Azad F, Nabavi M, Bemanian MH, Arshi S, Molatefi R, Sherkat R, Mansouri M, Mesdaghi M, Babaie D, Mohammadzadeh I, Ghaffari J, Shafiei A, Kalantari N, Ahanchian H, Khoshkhui M, Soheili H, Dabbaghzadeh A, Shirkani A, Nasiri Kalmarzi R, Mortazavi SH, Tafaroji J, Khalili A, Mohammadi J, Negahdari B, Joghataei MT, Al-Ramadi BK, Picard C, Parvaneh N, Rezaei N, Chatila TA, Massaad MJ, Keles S, Hammarström L, Geha RS, Aghamohammadi A. Abolhassani H, et al. Among authors: geha rs. J Allergy Clin Immunol. 2018 Apr;141(4):1450-1458. doi: 10.1016/j.jaci.2017.06.049. Epub 2017 Sep 12. J Allergy Clin Immunol. 2018. PMID: 28916186
DOCK8 Deficiency Presenting as an IPEX-Like Disorder.
Alroqi FJ, Charbonnier LM, Keles S, Ghandour F, Mouawad P, Sabouneh R, Mohammed R, Almutairi A, Chou J, Massaad MJ, Geha RS, Baz Z, Chatila TA. Alroqi FJ, et al. Among authors: geha rs. J Clin Immunol. 2017 Nov;37(8):811-819. doi: 10.1007/s10875-017-0451-1. Epub 2017 Oct 23. J Clin Immunol. 2017. PMID: 29058101 Free PMC article.
627 results