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

Orpha code: 169154OMIM code: 608971

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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