Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds
C Prando, A Samarina, J Bustamante… - Medicine, 2013 - journals.lww.com
Abstract Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic
etiology of Mendelian susceptibility to mycobacterial disease (MSMD). We report the
genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5
countries (India, Iran, Pakistan, Saudi Arabia, and Tunisia). There are only 9 different mutant
alleles of the IL12B gene: 2 small insertions, 3 small deletions, 2 splice site mutations, and 1
large deletion, each causing a frameshift and leading to a premature stop codon, and 1 …
etiology of Mendelian susceptibility to mycobacterial disease (MSMD). We report the
genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5
countries (India, Iran, Pakistan, Saudi Arabia, and Tunisia). There are only 9 different mutant
alleles of the IL12B gene: 2 small insertions, 3 small deletions, 2 splice site mutations, and 1
large deletion, each causing a frameshift and leading to a premature stop codon, and 1 …