Pancytopenia due to IKZF1 mutations

Orpha code: 317473OMIM code: 616873

Definition

A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

Disease data
Classification

Disease

Synonyms
CID due to IKAROS deficiency
CID spowodowny niedoborem IKAROS
Złożony niedobór odporności spowodowny niedoborem IKAROS
Combined immunodeficiency due to IKAROS deficiency
ORPHA code
317473
OMIM code
616873
ICD10 code
D81.8
ICD11 code
-

No additional description.

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