T-B+ severe combined immunodeficiency due to CD45 deficiency

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

Disease data
Classification

Disease

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

No additional description.

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