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A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.
Hoyos-Bachiloglu R, Chou J, Sodroski CN, Beano A, Bainter W, Angelova M, Al Idrissi E, Habazi MK, Alghamdi HA, Almanjomi F, Al Shehri M, Elsidig N, Alaa Eldin M, Knipe DM, AlZahrani M, Geha RS. Hoyos-Bachiloglu R, et al. J Clin Invest. 2017 Dec 1;127(12):4415-4420. doi: 10.1172/JCI93486. Epub 2017 Nov 6. J Clin Invest. 2017. PMID: 29106381 Free PMC article. Clinical Trial.
Heterozygosity for transmembrane activator and calcium modulator ligand interactor A144E causes haploinsufficiency and pneumococcal susceptibility in mice.
Jabara HH, Lee JJ, Janssen E, Ullas S, Liadaki K, Garibyan L, Benson H, Sannikova T, Bram R, Hammarstrom L, Cruz AC, Siegel R, Manis J, Malley R, Geha RS. Jabara HH, et al. J Allergy Clin Immunol. 2017 Apr;139(4):1293-1301.e4. doi: 10.1016/j.jaci.2016.07.028. Epub 2016 Sep 5. J Allergy Clin Immunol. 2017. PMID: 27609654 Free PMC article.
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. Jabara HH, et al. Nat Genet. 2016 Jan;48(1):74-8. doi: 10.1038/ng.3465. Epub 2015 Dec 7. Nat Genet. 2016. PMID: 26642240 Free PMC article.
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.
Boisson B, Laplantine E, Dobbs K, Cobat A, Tarantino N, Hazen M, Lidov HG, Hopkins G, Du L, Belkadi A, Chrabieh M, Itan Y, Picard C, Fournet JC, Eibel H, Tsitsikov E, Pai SY, Abel L, Al-Herz W, Casanova JL, Israel A, Notarangelo LD. Boisson B, et al. J Exp Med. 2015 Jun 1;212(6):939-51. doi: 10.1084/jem.20141130. Epub 2015 May 25. J Exp Med. 2015. PMID: 26008899 Free PMC article.
57 results