A rare syndrome with combined immunodeficiency with characteristics of 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. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3757816012
Pancytopenia due to IKZF1 mutations
Active
Synonym
false
false
3757818013
Combined immunodeficiency due to IKAROS deficiency
Active
Synonym
false
false
3757819017
Pancytopenia due to IKAROS family zinc finger 1 mutations