Search for a rare disease
Other search option(s)
Pancytopenia due to IKZF1 mutations
Disease 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.
ORPHA:317473
Classification level: Disorder- Synonym(s):
- CID due to IKAROS deficiency
- Combined immunodeficiency due to IKAROS deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Neonatal, Infancy, Childhood, Adolescent, Adult
- ICD-10: D81.8
- OMIM: 616873
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.