IL-12Rβ1 deficiency: Mutation update and description of the IL12RB1 variation database

Ralf Paus; Esther van de Vosse; Margje H. Haverkamp; Noe Ramirez-Alejo; Mónica Martinez-Gallo; Lizbeth Blancas-Galicia; Ayşe Metin; Ben Zion Garty; Çaǧman Sun-Tan; Arnon Broides; Roelof A. de Paus; Özlem Keskin; Deniz Çaǧdaş; Ilhan Tezcan; Encarna Lopez-Ruzafa; Juan I. Aróstegui; Jacov Levy; Francisco J. Espinosa-Rosales; Özden Sanal; Leopoldo Santos-Argumedo; Jean Laurent Casanova; Stephanie Boisson-Dupuis; Jaap T. van Dissel; Jacinta Bustamante

doi:10.1002/humu.22380

IL-12Rβ1 deficiency: Mutation update and description of the IL12RB1 variation database

Ralf Paus, Esther van de Vosse, Margje H. Haverkamp, Noe Ramirez-Alejo, Mónica Martinez-Gallo, Lizbeth Blancas-Galicia, Ayşe Metin, Ben Zion Garty, Çaǧman Sun-Tan, Arnon Broides, Roelof A. de Paus, Özlem Keskin, Deniz Çaǧdaş, Ilhan Tezcan, Encarna Lopez-Ruzafa, Juan I. Aróstegui, Jacov Levy, Francisco J. Espinosa-Rosales, Özden Sanal, Leopoldo Santos-ArgumedoJean Laurent Casanova, Stephanie Boisson-Dupuis, Jaap T. van Dissel, Jacinta Bustamante

Research output: Contribution to journal › Article › peer-review

Abstract

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. © 2013 Wiley Periodicals, Inc.

Original language	English
Pages (from-to)	1329-1339
Number of pages	10
Journal	Human Mutation
Volume	34
Issue number	10
DOIs	https://doi.org/10.1002/humu.22380
Publication status	Published - Oct 2013

Keywords

IL-12Rβ1 deficiency
IL12RB1
Mendelian susceptibility to mycobacterial disease

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Paus, R., van de Vosse, E., Haverkamp, M. H., Ramirez-Alejo, N., Martinez-Gallo, M., Blancas-Galicia, L., Metin, A., Garty, B. Z., Sun-Tan, Ç., Broides, A., de Paus, R. A., Keskin, Ö., Çaǧdaş, D., Tezcan, I., Lopez-Ruzafa, E., Aróstegui, J. I., Levy, J., Espinosa-Rosales, F. J., Sanal, Ö., ... Bustamante, J. (2013). IL-12Rβ1 deficiency: Mutation update and description of the IL12RB1 variation database. Human Mutation, 34(10), 1329-1339. https://doi.org/10.1002/humu.22380

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title = "IL-12Rβ1 deficiency: Mutation update and description of the IL12RB1 variation database",

abstract = "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. {\textcopyright} 2013 Wiley Periodicals, Inc.",

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author = "Ralf Paus and {van de Vosse}, Esther and Haverkamp, {Margje H.} and Noe Ramirez-Alejo and M{\'o}nica Martinez-Gallo and Lizbeth Blancas-Galicia and Ay{\c s}e Metin and Garty, {Ben Zion} and {\c C}aǧman Sun-Tan and Arnon Broides and {de Paus}, {Roelof A.} and {\"O}zlem Keskin and Deniz {\c C}aǧda{\c s} and Ilhan Tezcan and Encarna Lopez-Ruzafa and Ar{\'o}stegui, {Juan I.} and Jacov Levy and Espinosa-Rosales, {Francisco J.} and {\"O}zden Sanal and Leopoldo Santos-Argumedo and Casanova, {Jean Laurent} and Stephanie Boisson-Dupuis and {van Dissel}, {Jaap T.} and Jacinta Bustamante",

year = "2013",

month = oct,

doi = "10.1002/humu.22380",

language = "English",

volume = "34",

pages = "1329--1339",

journal = "Human Mutation",

issn = "1059-7794",

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Paus, R, van de Vosse, E, Haverkamp, MH, Ramirez-Alejo, N, Martinez-Gallo, M, Blancas-Galicia, L, Metin, A, Garty, BZ, Sun-Tan, Ç, Broides, A, de Paus, RA, Keskin, Ö, Çaǧdaş, D, Tezcan, I, Lopez-Ruzafa, E, Aróstegui, JI, Levy, J, Espinosa-Rosales, FJ, Sanal, Ö, Santos-Argumedo, L, Casanova, JL, Boisson-Dupuis, S, van Dissel, JT & Bustamante, J 2013, 'IL-12Rβ1 deficiency: Mutation update and description of the IL12RB1 variation database', Human Mutation, vol. 34, no. 10, pp. 1329-1339. https://doi.org/10.1002/humu.22380

TY - JOUR

T1 - IL-12Rβ1 deficiency: Mutation update and description of the IL12RB1 variation database

AU - Paus, Ralf

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

Y1 - 2013/10

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. © 2013 Wiley Periodicals, Inc.

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. © 2013 Wiley Periodicals, Inc.

KW - IL-12Rβ1 deficiency

KW - IL12RB1

KW - Mendelian susceptibility to mycobacterial disease

U2 - 10.1002/humu.22380

DO - 10.1002/humu.22380

M3 - Article

SN - 1059-7794

VL - 34

SP - 1329

EP - 1339

JO - Human Mutation

JF - Human Mutation

IS - 10

ER -

IL-12Rβ1 deficiency: Mutation update and description of the IL12RB1 variation database

Abstract

Keywords

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