Orphanet: Pancytopenia due to IKZF1 mutations

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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.


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: -
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