Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene

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...

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Hlavní autoři:	Bahar Göktürk, Capucine Picard, Jean-Laurent Casanova, Melanie Migaud, Durmuş Burgucu, Tuba Turul-Özgür, Caroline Deswarte, Carmen Oleaga-Quintas, Ümran Çalışkan, İsmail Reisli, Jacinta Bustamante
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Hacettepe University Institute of Child Health 2016-06-01
Edice:	The Turkish Journal of Pediatrics
Témata:	IL-12Rβ1 deficiency autoimmunity midline defect salmonellosis
On-line přístup:	https://turkjpediatr.org/article/view/1122
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