T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

Orpha code: 169154OMIM code: 608971

Definition

A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.

Disease data
Classification

Disease

Synonyms
T-B+ SCID due to IL-7Ralpha deficiency
T-B+ SCID z powodu niedoboru IL-7Ralfa
ORPHA code
169154
OMIM code
608971
ICD10 code
D81.2
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl