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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473876/
https://www.ncbi.nlm.nih.gov/pubmed/28623346
http://dx.doi.org/10.1038/s41598-017-02434-4