Severe combined immunodeficiency due to LCK deficiency

Orpha code: 280142OMIM code: 615758

Definition

A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.

Disease data
Classification

Disease

Synonyms
SCID due to LCK deficiency
Ciężki złożony Niedobór odporności z powodu niedoboru specyficznej dla limfocytów kinazy tyrozynowej
SCID z powodu niedoboru LCK
SCID z powodu niedoboru specyficznej dla limfocytów kinazy tyrozynowej
SCID due to lymphocyte-specific protein tyrosine kinase deficiency
Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
ORPHA code
280142
OMIM code
615758
ICD10 code
D81.1
ICD11 code
-

No additional description.

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