Disease progression of WHIM syndrome in an international cohort of 66 pediatric and adult patients

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously...

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Main Authors: Geier, CB, Ellison, M, Cruz, R, Pawar, S, Leiss-Piller, A, Zmajkovicova, K, McNulty, SM, Yilmaz, M, Evans, MO, Gordon, S, Ujhazi, B, Wiest, I, Abolhassani, H, Aghamohammadi, A, Barmettler, S, Bhar, S, Bondarenko, A, Bolyard, AA, Buchbinder, D, Cada, M, Cavieres, M, Connelly, JA, Dale, DC, Deordieva, E, Dorsey, MJ, Drysdale, SB, Ehl, S, Elfeky, R, Fioredda, F, Firkin, F, Förster-Waldl, E, Geng, B, Goda, V, Gonzalez-Granado, L, Grunebaum, E, Grzesk, E, Henrickson, SE, Hilfanova, A, Hiwatari, M, Imai, C, Ip, W, Jyonouchi, S, Kanegane, H, Kawahara, Y, Khojah, AM, Kim, VH-D, Kojić, M, Kołtan, S, Krivan, G, Langguth, D
Format: Journal article
Language:English
Published: Springer 2022