Revisiting Human IL-12Rβ1 Deficiency: A Survey of 141 Patients From 30 Countries

摘要: Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey 141 patients from 102 kindreds in 30 countries. Among probands, first infection occurred at a mean age 2.4 years. In 78 patients, this was caused by Bacille Calmette-Guerin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n 9) Mycobacterium tuberculosis 4). Twenty-two remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped symptoms died. Recurrent BCG diagnosed 15 cases, recurrent EM 3 salmonellosis 22 patients. Ninety 132 symptomatic had infections single microorganism. Multiple were 40 combined mycobacteriosis and 36 individuals. strongly protected against subsequent (p 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis reported 33 (23%). Ninety-nine (70%) survived, last follow-up visit 12.7 years ± 9.8 (range, 0.5-46.4 yr). IL-12Rβ1 characterized childhood-onset salmonellosis, rare recurrences disease, more frequent recurrence The condition has higher penetrance, broader infections, less favorable outcome than previously thought.