Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

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. Her...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5473876/
https://ncbi.nlm.nih.gov/pubmed/28623346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-02434-4
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