Molecular analysis for patients with IL-12 receptor β1 deficiency

Clinical Genetics

Volumn 86, Issue 2, 2014, Pages 161-166

  Ramirez Alejo, N ^a   Blancas Galicia, L ^b   Yamazaki Nakashimada, M ^b   Garcia Rodriguez S E ^a   Rivas Larrauri, F ^b   Paolo Cienfuegos, D P ^c   Alcantara Salinas, A ^d   Espinosa Rosales, F ^b   Santos Argumedo, L ^a  

^a DEPARTAMENTO DE FÍSICA   (Mexico)

^b INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^c HOSPITAL INFANTIL DE MÉXICO FEDERICO GÓMEZ   (Mexico)

^d Military Hospital Centre   (Mexico)

Author keywords

Immunodeficiency; Interleukin 12 receptor 1; Mycobacterial disease; Systemic lupus erythematosus

Indexed keywords

AZATHIOPRINE; BCG VACCINE; CLINDAMYCIN; ETHAMBUTOL; GENOMIC DNA; INTERLEUKIN 12 RECEPTOR BETA1; ISONIAZID; PREDNISONE; PYRAZINAMIDE; RECOMBINANT ALPHA INTERFERON; RIFAMPICIN; INTERLEUKIN 12; INTERLEUKIN 12 RECEPTOR;

ABSENCE OF SIDE EFFECTS; ACID FAST BACTERIUM; ADOLESCENT; ARTHRITIS; ARTICLE; ATYPICAL MYCOBACTERIUM; BCG VACCINATION; BLOOD SAMPLING; BONE BIOPSY; BOVINE TUBERCULOSIS; BRAIN HEMORRHAGE; BURKHOLDERIA CEPACIA; CANDIDA GLABRATA; CANDIDA KRUSEI; CANDIDA TROPICALIS; CELL SURFACE; CENTRAL NERVOUS SYSTEM TUBERCULOSIS; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; DISSEMINATED GRANULOMATOUS DISEASE; EYE FUNDUS; FEMALE; GENETIC ANALYSIS; GRANULOMA; GRANULOMATOSIS; HEPATOMEGALY; HUMAN; IN VITRO STUDY; INFANT; INTERLEUKIN 12 RECEPTOR BETA1 DEFICIENCY; KLEBSIELLA PNEUMONIAE; LEUKOCYTOSIS; LUNG TUBERCULOSIS; LYMPHADENITIS; LYMPHADENOPATHY; MALE; MEDIASTINAL ADENOPATHY; MOUTH ULCER; MYCOBACTERIOSIS; MYCOBACTERIUM GORDONAE; MYCOBACTERIUM GORDONAE INFECTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PSEUDOMONAS AERUGINOSA; SCHOOL CHILD; SPLENOMEGALY; SPUTUM SMEAR; STEM CELL TRANSPLANTATION; SYSTEMIC LUPUS ERYTHEMATOSUS; TONIC CLONIC SEIZURE; BLOOD; CASE REPORT; DEFICIENCY; FATALITY; GENETICS; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; T LYMPHOCYTE;

CORYNEBACTERINEAE;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HUMANS; INFANT; INTERLEUKIN-12; MALE; MOLECULAR SEQUENCE DATA; RECEPTORS, INTERLEUKIN-12; T-LYMPHOCYTES;

EID: 84904633532     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12253     Document Type: Article

References (13)

1. van de Vosse E, Hoeve MA, Ottenhoff TH. Human genetics of intracellular infectious diseases: Molecular and cellular immunity against mycobacteria and salmonellae. Lancet Infect Dis 2004: 4 (12): 739-749.
2. Ottenhoff THM, Verreck FAW, Lichtenauer-Kaligis EGR et al. Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae. Nat Genet 2002: 32: 97-105.
3. MacLennan C, Fieschi C, Lammas DA et al. Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans. J Infect Dis 2004: 190 (10): 1755-1757.
4. Moraes-Vasconcelos D, Grumach AS, Yamaguti A et al. Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor. Clin Infect Dis 2005: 41: 31-37.
5. Pedraza S, Lezana JL, Samarina A et al. Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor β1 deficiency. Pediatrics 2010: 126: 971-976.
6. Hambleton S, Salem S, Bustamante J et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl Med 2011: 365: 127-138.
7. Bogunovic D, Byunn M, Durfee LA et al. Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science 2012: 10 (1126): 1-7.
8. Staretz-Haham O, Melamed R, Lifshitz M et al. Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection. Clin Infect Dis 2003: 37 (1): 137-140.
9. Fieschi C, Casanova JL. The role of interleukin-12 in human infectious diseases: only a faint signature. Eur J Immunol 2003: 33 (6): 1461-1464.
10. Curtis MM, Way SS. Interleukin-17 in host defense against bacterial, mycobacterial and fungal pathogens. Immunology 2009: 126: 177-185.
11. Lichtenauer-Kaligis EG, de Boer T, Verreck FA et al. Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency. Eur J Immunol 2003: 33 (1): 59-69.
12. Fieschi C, Dupuis S, Catherinot E et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: Medical and immunological implications. J Exp Med 2003: 197 (4): 527-535.
13. de Beaucoudrey L, Samarina A, Bustamante J et al. Revisting Human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine 2010: 89 (6): 381-402.