IL-12Rbeta1 deficiency: mutation up- date and description of the IL12RB1 variation database. Hum Mutat. 2013;34(10):1329-39. doi: 10.1002/humu.22380. [PubMed: 23864330].E. van de Vosse, M. H. Haverkamp, N. Ramirez-Alejo, M. Martinez-Gallo, L. Blancas-Galicia...
IL-12Rβ1 deficiency, also known as immunodeficiency 30 (IMD30, OMIM 614891), is a rare immunodeficiency syndrome caused by biallelic mutations in IL12RB1. Three second-degree relatives of a patient with this syndrome, all women, developed intestinal-type gastric cancer (GC). In the Netherland...
Interleukin-12 receptor B1 (IL12RB1) deficiencyAlthough neonatal vaccination with bacille CalmetteGurin (BCG) is considered to be safe, complications with disseminated disease are associated with underlying immuno-deficiency disorders. A BCG-vaccinated 4-month-old girl of Sri Lankan parentage developed ...
M279 IL-12RB1 DEFICIENCY PRESENTING AS CHRONIC CERVICAL LYMPHADENOPATHY AND SALMONELLA BACTEREMIAdoi:10.1016/j.anai.2019.08.384S. SommerhalderD. LindsayB. NaeemElsevier BVAnnals of Allergy, Asthma & Immunology
349. Partial Correction of IL-12 Receptor beta-1 (IL-12Rb1) Deficiency in Mice upon Transplantation of Retrovirally Transduced Hematopoietic Stem Cellsmt is a cross-disciplinary biomedical journal devoted to publishing the most exciting advances in pharmacology and therapeutics, as they pertain to ...
Mutation 1623_1624delGCinsTTand IL-12Rb1 Deficiency: A Mutational Founder Effect on the Most Frequently Affected Gene for Mendelian Susceptibility to Mycobacterial Diseaseadverse effectsantitubercular agentstuberculosisrifampicinhepatotoxicityliverAntituberculosis drug-induced hepatotoxicity (ATDH) complicates ...
CANDIDIASISInterleukin 12 receptor beta 1 (IL-12R尾1) deficiency results in a wide variety of clinical manifestations, ranging from early death in infancy to asymptomatic adulthood. Patients are frequently infected with mycobacteria, with half developing salmonellosis and a quarter developing ch...
Mutations in IFNGR1, IFNGR2, IL12RB1, IL12B, STAT1 and NEMO result in a common clinical phenotype known as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common genetic etiology for MSMD. Known mutations affecting IL12...
IL-12R1 deficiency, also known as immunodeficiency 30 (IMD30, OMIM 614891), is a rare immunodeficiency syndrome caused by biallelic mutations in IL12RB1. Three second-degree relatives of a patient with this syndrome, all women, developed intestinal-type gastric cancer (GC). In the Netherlands...