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Page 1
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.
Sancho-Shimizu V, Pérez de Diego R, Lorenzo L, Halwani R, Alangari A, Israelsson E, Fabrega S, Cardon A, Maluenda J, Tatematsu M, Mahvelati F, Herman M, Ciancanelli M, Guo Y, AlSum Z, Alkhamis N, Al-Makadma AS, Ghadiri A, Boucherit S, Plancoulaine S, Picard C, Rozenberg F, Tardieu M, Lebon P, Jouanguy E, Rezaei N, Seya T, Matsumoto M, Chaussabel D, Puel A, Zhang SY, Abel L, Al-Muhsen S, Casanova JL. Sancho-Shimizu V, et al. Among authors: alangari a. J Clin Invest. 2011 Dec;121(12):4889-902. doi: 10.1172/JCI59259. Epub 2011 Nov 21. J Clin Invest. 2011. PMID: 22105173 Free PMC article.
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, Al-Manjomi F, Al-Harbi M, Alangari A, Le Deist F, Gennery AR, Prince N, Cariou A, Nitschke P, Blank U, El-Ghazali G, Ménasché G, Latour S, Fischer A, de Saint Basile G. Côte M, et al. Among authors: alangari a. J Clin Invest. 2009 Dec;119(12):3765-73. doi: 10.1172/JCI40732. Epub 2009 Nov 2. J Clin Invest. 2009. PMID: 19884660 Free PMC article.
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.
Alsohime F, Martin-Fernandez M, Temsah MH, Alabdulhafid M, Le Voyer T, Alghamdi M, Qiu X, Alotaibi N, Alkahtani A, Buta S, Jouanguy E, Al-Eyadhy A, Gruber C, Hasan GM, Bashiri FA, Halwani R, Hassan HH, Al-Muhsen S, Alkhamis N, Alsum Z, Casanova JL, Bustamante J, Bogunovic D, Alangari AA. Alsohime F, et al. Among authors: alangari aa. N Engl J Med. 2020 Jan 16;382(3):256-265. doi: 10.1056/NEJMoa1905633. N Engl J Med. 2020. PMID: 31940699 Free PMC article.
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PPW, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Özbek N, Aksu G, K… See abstract for full author list ➔ de Beaucoudrey L, et al. Among authors: alangari a. Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832. Medicine (Baltimore). 2010. PMID: 21057261 Free PMC article.
Immune dysregulation caused by homozygous mutations in CBLB.
Janssen E, Peters Z, Alosaimi MF, Smith E, Milin E, Stafstrom K, Wallace JG, Platt CD, Chou J, El Ansari YS, Al Farsi T, Ameziane N, Al-Ali R, Calvo M, Rocha ME, Bauer P, Al-Sannaa NA, Al Sukaiti NF, Alangari AA, Bertoli-Avella AM, Geha RS. Janssen E, et al. Among authors: alangari aa. J Clin Invest. 2022 Oct 17;132(20):e154487. doi: 10.1172/JCI154487. J Clin Invest. 2022. PMID: 36006710 Free PMC article.
65 results