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CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.
Ozen A, Comrie WA, Ardy RC, Domínguez Conde C, Dalgic B, Beser ÖF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ. Ozen A, et al. N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28. N Engl J Med. 2017. PMID: 28657829 Free PMC article.
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernández A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ. Cook SA, et al. Science. 2020 Jul 10;369(6500):202-207. doi: 10.1126/science.aay5663. Science. 2020. PMID: 32647003 Free PMC article.
Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency.
Shafer S, Yao Y, Comrie W, Cook S, Zhang Y, Yesil G, Karakoç-Aydiner E, Baris S, Cokugras H, Aydemir S, Kiykim A, Ozen A, Lenardo M. Shafer S, et al. J Allergy Clin Immunol. 2021 Jul;148(1):256-261.e2. doi: 10.1016/j.jaci.2020.12.629. Epub 2021 Jan 22. J Allergy Clin Immunol. 2021. PMID: 33359359 Free PMC article.