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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Horesh ME, et al. Among authors: fuleihan rl. J Exp Med. 2024 Jun 3;221(6):e20232387. doi: 10.1084/jem.20232387. Epub 2024 Apr 2. J Exp Med. 2024. PMID: 38563820 Free PMC article.
A dyslexia-associated variant in DCDC2 changes gene expression.
Meng H, Powers NR, Tang L, Cope NA, Zhang PX, Fuleihan R, Gibson C, Page GP, Gruen JR. Meng H, et al. Behav Genet. 2011 Jan;41(1):58-66. doi: 10.1007/s10519-010-9408-3. Epub 2010 Nov 2. Behav Genet. 2011. PMID: 21042874 Free PMC article.
Characterization of T and B cell repertoire diversity in patients with RAG deficiency.
Lee YN, Frugoni F, Dobbs K, Tirosh I, Du L, Ververs FA, Ru H, Ott de Bruin L, Adeli M, Bleesing JH, Buchbinder D, Butte MJ, Cancrini C, Chen K, Choo S, Elfeky RA, Finocchi A, Fuleihan RL, Gennery AR, El-Ghoneimy DH, Henderson LA, Al-Herz W, Hossny E, Nelson RP, Pai SY, Patel NC, Reda SM, Soler-Palacin P, Somech R, Palma P, Wu H, Giliani S, Walter JE, Notarangelo LD. Lee YN, et al. Among authors: fuleihan rl. Sci Immunol. 2016 Dec 16;1(6):eaah6109. doi: 10.1126/sciimmunol.aah6109. Epub 2016 Dec 16. Sci Immunol. 2016. PMID: 28783691 Free PMC article.
CD40 ligand/CD40 deficiency.
Castigli E, Fuleihan R, Ramesh N, Tsitsikov E, Tsytsykova A, Geha RS. Castigli E, et al. Int Arch Allergy Immunol. 1995 May-Jun;107(1-3):37-9. doi: 10.1159/000236923. Int Arch Allergy Immunol. 1995. PMID: 7542090 Review.
Toxic shock syndrome toxin-1, toxic shock, and the immune system.
Chatila T, Scholl P, Spertini F, Ramesh N, Trede N, Fuleihan R, Geha RS. Chatila T, et al. Curr Top Microbiol Immunol. 1991;174:63-79. doi: 10.1007/978-3-642-50998-8_5. Curr Top Microbiol Immunol. 1991. PMID: 1802619 Review. No abstract available.
Primary immunodeficiency diseases: past, present and future.
Fuleihan R, Etzioni A. Fuleihan R, et al. Curr Opin Allergy Clin Immunol. 2012 Dec;12(6):575-6. doi: 10.1097/ACI.0b013e328359fed2. Curr Opin Allergy Clin Immunol. 2012. PMID: 23044894 No abstract available.
92 results