Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.
Tanir
Gonul
G
Dr. Sami Ulus Children Health and Diseases Training and Research Center, Hosdere Caddesi 166/3, Yukari Ayranci, 06550 Ankara, Turkey. gonultanir58@yahoo.com
Dogu
Figen
F
Tuygun
Nilden
N
Ikinciogullari
Aydan
A
Aytekin
Caner
C
Aydemir
Cumhur
C
Yuksek
Mutlu
M
Boduroglu
Esin Cengiz
EC
de Beaucoudrey
Ludovic
L
Fieschi
Claire
C
Feinberg
Jacqueline
J
Casanova
Jean-Laurent
JL
Babacan
Emel
E
D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology; D007223:Infant; D053711:Interleukin-12 Receptor beta 1 Subunit / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D009154:Mutation; D009164:Mycobacterium Infections / Q000276:immunology; D053707:Receptors, Interleukin-12 / Q000172:deficiency* / Q000235:genetics*; D012480:Salmonella Infections / Q000276:immunology; D014388:Tuberculosis, Lymph Node / Q000276:immunology; D014421:Turkey
C508438:IL12RB1 protein, human; D053711:Interleukin-12 Receptor beta 1 Subunit; D053707:Receptors, Interleukin-12