Article
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.
Journal of clinical immunology - 1 Feb 2015
Aydin Susanne E, Kilic Sara Sebnem, Aytekin Caner, Kumar Ashish, Porras Oscar, Kainulainen Leena, Kostyuchenko Larysa, Genel Ferah, Kütükcüler Necil, Karaca Neslihan, Gonzalez-Granado Luis, Abbott Jordan, Al-Zahrani Daifulah, Rezaei Nima, Baz Zeina, Thiel Jens, Ehl Stephan, Marodi László, Orange Jordan S, Sawalle-Belohradsky Julie, Keles Sevgi, Holland Steven M, Sanal Özden, Ayvaz Deniz C, Tezcan Ilhan, Al-Mousa Hamoud, Alsum Zobaida, Hawwari Abbas, Metin Ayse, Matthes-Martin Susanne, Hönig Manfred, Schulz Ansgar, Picard Capucine, Barlogis Vincent, Gennery Andrew, Ifversen Marianne, van Montfrans Joris, Kuijpers Taco, Bredius Robbert, Dückers Gregor, Al-Herz Waleed, Pai Sung-Yun, Geha Raif, Notheis Gundula, Schwarze Carl-Philipp, Tavil Betül, Azik Fatih, Bienemann Kirsten, Grimbacher Bodo, Heinz Valerie, Gaspar H Bobby, Aydin Roland, Hagl Beate, Gathmann Benjamin, Belohradsky Bernd H, Ochs Hans D, Chatila Talal, Renner Ellen D, Su Helen, Freeman Alexandra F, Engelhardt Karin, Albert Michael H
Abstract excerpt
Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and optimal therapeutic management have not yet been clearly defined. In an international retrospective survey of patients with DOCK8 mutations, focused on clinical presentation and therapeutic measures, a total of 136 patients with a median...
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