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Infectious Diseases, Autoimmunity and Midline Defect in A Patient with A Novel Bi-Allelic Mutation in IL12RB1 Gene
Goktrurk, Bahar; Reisli, Ismail; Caliskan, Umran; Oleaga-Quintas, Carmen; Deswarte, Caroline; Turul-Ozgur, Tuba; Burgucu, Durmus; Migaud, Melanie; Casanova, Jean-Laurent; Picard, Capucine; Bustamante, Jacinta (2016)Clinical disease caused by weakly pathogenic mycobacterial species, which is known as Mendelian susceptibility to mycobacterial disease (MSMD), is a rare entity. IFN-gamma and IL-17 production are defective due to insufficient ...