Article
Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.
The Turkish journal of pediatrics - 1 Jan 2016
Göktürk Bahar, Reisli İsmail, Çalışkan Ümran, Oleaga-Quintas Carmen, Deswarte Caroline, Turul-Özgür Tuba, Burgucu Durmuş, Migaud Melanie, Casanova Jean-Laurent, Picard Capucine, Bustamante Jacinta
Abstract excerpt
Clinical disease caused by weakly pathogenic mycobacterial species, which is known as Mendelian susceptibility to mycobacterial disease (MSMD), is a rare entity. IFN-γ and IL-17 production are defective due to insufficient response to IL-2 and IL-23 in IL-12Rβ1 deficiency; so this also causes tendency to intracellular microorganisms and candidal diseases. Here, we present a patient who suffers IL-12Rβ1 deficiency...
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