Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.
We describe 3 siblings with interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency, a known genetic etiology of clinical disease caused by infection with poorly virulent mycobacteria, such as mycobacteria found in bacille Calmette-Guérin (BCG) vaccines and environmental nontuberculous mycobacteria (NTM). One child had disseminated tuberculosis, the second had extraintestinal salmonellosis and pulmonary tuberculosis, and the third remained asymptomatic. IL-12Rbeta1 deficiency should be considered as a diagnosis in patients with severe salmonellosis or tuberculosis, even if they do not have disease due to BCG or NTM.
Caragol
Isabel
I
Immunology Unit, Hospital Vall d'Hebron, Barcelona, Spain. iscaur@hg.vhebron.es
Raspall
Miquel
M
Fieschi
Claire
C
Feinberg
Jaqueline
J
Larrosa
María N
MN
Hernández
Manuel
M
Figueras
Concepción
C
Bertrán
Jose-María
JM
Casanova
Jean-Laurent
JL
Español
Teresa
T
D000293:Adolescent; D001500:BCG Vaccine; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D009161:Mycobacterium; D018123:Receptors, Interleukin / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D053707:Receptors, Interleukin-12; D012480:Salmonella Infections / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D014376:Tuberculosis / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology
D001500:BCG Vaccine; C508438:IL12RB1 protein, human; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12