Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis.
An 11-year-old girl who presented with disseminated tuberculosis associated with secondary hemophagocytosis received a diagnosis of interleukin-12 receptor beta 1 chain deficiency. This diagnosis of immunodeficiency should, therefore, be considered for children with disseminated tuberculosis, even in the absence of any personal or familial history of prior infection by weakly pathogenic Salmonella and Mycobacterium species.
Ozbek
Namik
N
Department of Pediatrics, Baskent University School of Medicine, Ankara, Turkey.
Fieschi
Claire
C
Yilmaz
Bafak T
BT
de Beaucoudrey
Ludovic
L
Demirhan
Beyhan
B
Feinberg
Jacqueline
J
Bikmaz
Yunus Emre
YE
Casanova
Jean-Laurent
JL
D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D021122:Protein Subunits / Q000172:deficiency / Q000235:genetics; D018123:Receptors, Interleukin / Q000172:deficiency* / Q000235:genetics; D053707:Receptors, Interleukin-12; D014376:Tuberculosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
D021122:Protein Subunits; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12