Atypical Manifestation of LRBA Deficiency with Predominant IBD-like Phenotype
2014; Oxford University Press; Volume: 21; Issue: 1 Linguagem: Inglês
10.1097/mib.0000000000000266
ISSN1536-4844
AutoresNina K. Serwas, Aydan Kansu, Elisangela Santos-Valente, Zarife Kuloğlu, Arzu Meltem Demir, Aytaç Yaman, Laura Gámez‐Díaz, Reha Artan, Ersin Sayar, Arzu Ensarı, Bodo Grimbacher, Kaan Boztuğ,
Tópico(s)Blood disorders and treatments
ResumoBackgroundInflammatory bowel diseases (IBDs) denote a heterogeneous group of disorders associated with an imbalance of gut microbiome and the immune system. Importance of the immune system in the gut is endorsed by the presence of IBD-like symptoms in several primary immunodeficiencies. A fraction of early-onset IBDs presenting with more severe disease course and incomplete response to conventional treatment is assumed to be inherited in a Mendelian fashion, as exemplified by the recent discovery of interleukin (IL)-10 (receptor) deficiency.
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