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Reticular dysgenesis

Disease definition

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.


Classification level: Disorder
  • Synonym(s):
    • AK2 deficiency
    • Congenital aleukocytosis
    • De Vaal disease
    • Generalized hematopoietic hypoplasia
    • SCID with leukopenia
    • Severe combined immunodeficiency with leukopenia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.0
  • ICD-11: 4A01.10
  • OMIM: 267500
  • UMLS: C0272167
  • MeSH: C538361
  • GARD: 8625
  • MedDRA: -

Detailed information

General public

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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