Pancytopenia due to IKZF1 mutations


Engelsk navn: Pancytopenia due to IKZF1 mutations
Engelske synonym: CID due to IKAROS deficiency,Combined immunodeficiency due to IKAROS deficiency


Definisjon

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.

Fra Orphanet

ORPHA: 317473
Klassifiseringsnivå: Disorder
ICD-10: D81.8

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