T-B+ severe combined immunodeficiency due to CD45 deficiency

Orpha code: 169157OMIM 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. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.

Disease data
Klasyfikacja

Disease

Synonimy
T-B+ SCID due to CD45 deficiency
T-B+ SCID z powodu niedoboru CD45
Kod ORPHA
169157
Kod OMIM
608971
Kod ICD10
D81.2
Kod ICD11
-

No additional description.

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