Article
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.
Scientific reports - 16 Jun 2017
Bogaert Delfien J, Dullaers Melissa, Kuehn Hye Sun, Leroy Bart P, Niemela Julie E, De Wilde Hans, De Schryver Sarah, De Bruyne Marieke, Coppieters Frauke, Lambrecht Bart N, De Baets Frans, Rosenzweig Sergio D, De Baere Elfride, Haerynck Filomeen
Abstract excerpt
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a...
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