Severe combined immunodeficiency due to CTPS1 deficiency

Orpha code: 420573OMIM code: 615897

Definition

A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.

Disease data
Classification

Disease

Synonyms
SCID due to CTPS1 deficiency
SCID z powodu niedoboru CTPS1
ORPHA code
420573
OMIM code
615897
ICD10 code
D81.2
ICD11 code
-

No additional description.

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