TY - JOUR
T1 - IL-12Rβ1 deficiency
T2 - Mutation update and description of the IL12RB1 variation database
AU - van de Vosse, Esther
AU - Haverkamp, Margje H.
AU - Ramirez-Alejo, Noe
AU - Martinez-Gallo, Mónica
AU - Blancas-Galicia, Lizbeth
AU - Metin, Ayşe
AU - Garty, Ben Zion
AU - Sun-Tan, Çaǧman
AU - Broides, Arnon
AU - de Paus, Roelof A.
AU - Keskin, Özlem
AU - Çaǧdaş, Deniz
AU - Tezcan, Ilhan
AU - Lopez-Ruzafa, Encarna
AU - Aróstegui, Juan I.
AU - Levy, Jacov
AU - Espinosa-Rosales, Francisco J.
AU - Sanal, Özden
AU - Santos-Argumedo, Leopoldo
AU - Casanova, Jean Laurent
AU - Boisson-Dupuis, Stephanie
AU - van Dissel, Jaap T.
AU - Bustamante, Jacinta
PY - 2013/10/1
Y1 - 2013/10/1
N2 - IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12Rβ1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12Rβ1 thus abolishes both IL-12 and IL-23 signaling. IL-12Rβ1 deficiency is caused by bi-allelic mutations in the IL12RB1 gene. Mutations resulting in premature stop codons, such as nonsense, frame shift, and splice site mutations, represent the majority of IL-12Rβ1 deficiency causing mutations (66%; 46/70). Also every other morbid mutation completely inactivates the IL-12Rβ1 protein. In addition to disease-causing mutations, rare and common variations with unknown functional effect have been reported in IL12RB1. All these variants have been deposited in the online IL12RB1 variation database (www.LOVD.nl/IL12RB1). In this article, we review the function of IL-12Rβ1 and molecular genetics of human IL12RB1.
AB - IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12Rβ1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12Rβ1 thus abolishes both IL-12 and IL-23 signaling. IL-12Rβ1 deficiency is caused by bi-allelic mutations in the IL12RB1 gene. Mutations resulting in premature stop codons, such as nonsense, frame shift, and splice site mutations, represent the majority of IL-12Rβ1 deficiency causing mutations (66%; 46/70). Also every other morbid mutation completely inactivates the IL-12Rβ1 protein. In addition to disease-causing mutations, rare and common variations with unknown functional effect have been reported in IL12RB1. All these variants have been deposited in the online IL12RB1 variation database (www.LOVD.nl/IL12RB1). In this article, we review the function of IL-12Rβ1 and molecular genetics of human IL12RB1.
KW - IL-12Rβ1 deficiency
KW - IL12RB1
KW - Mendelian susceptibility to mycobacterial disease
UR - http://www.scopus.com/inward/record.url?scp=84884534194&partnerID=8YFLogxK
U2 - 10.1002/humu.22380
DO - 10.1002/humu.22380
M3 - Article
C2 - 23864330
AN - SCOPUS:84884534194
SN - 1059-7794
VL - 34
SP - 1329
EP - 1339
JO - Human Mutation
JF - Human Mutation
IS - 10
ER -