Ataxia-telangiectasia

Orpha code: 100OMIM code: 208910

Definition

A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.

Disease data
Classification

Disease

Synonyms
Louis-Bar syndrome
Zespół Louisa i Bara
ORPHA code
100
OMIM code
208910
ICD10 code
G11.3
ICD11 code
4A01.31

No additional description.

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