Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features

Eur J Pediatr. 2006 Jun;165(6):415-7. doi: 10.1007/s00431-005-0078-8. Epub 2006 Feb 24.

Authors

Gonul Tanir¹, Figen Dogu, Nilden Tuygun, Aydan Ikinciogullari, Caner Aytekin, Cumhur Aydemir, Mutlu Yuksek, Esin Cengiz Boduroglu, Ludovic de Beaucoudrey, Claire Fieschi, Jacqueline Feinberg, Jean-Laurent Casanova, Emel Babacan

Affiliation

¹ Dr. Sami Ulus Children Health and Diseases Training and Research Center, Hosdere Caddesi 166/3, Yukari Ayranci, 06550 Ankara, Turkey. [email protected]

PMID: 16501992
DOI: 10.1007/s00431-005-0078-8

No abstract available

Publication types

Case Reports

MeSH terms

Child, Preschool
Female
Genetic Predisposition to Disease
Humans
Immunologic Deficiency Syndromes / genetics*
Immunologic Deficiency Syndromes / immunology
Infant
Interleukin-12 Receptor beta 1 Subunit / deficiency*
Interleukin-12 Receptor beta 1 Subunit / genetics*
Male
Mutation
Mycobacterium Infections / immunology
Receptors, Interleukin-12 / deficiency*
Receptors, Interleukin-12 / genetics*
Salmonella Infections / immunology
Tuberculosis, Lymph Node / immunology
Turkey

Substances

IL12RB1 protein, human
Interleukin-12 Receptor beta 1 Subunit
Receptors, Interleukin-12