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Hyper-IgM syndrome type 5

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ORPHA:101092

Classification level: Subtype of disorder

Synonym(s):
  • HIGM5
  • Hyper-IgM syndrome due to UNG deficiency
  • Hyper-IgM syndrome due to uracil N-glycosylase

Prevalence: -

Inheritance: Autosomal recessive

Age of onset:

ICD-10: D80.5

ICD-11: 4A01.05

OMIM: 608106

UMLS: C1720958

GARD: 10581

Summary

This disease is described under Hyper-IgM syndrome without susceptibility to opportunistic infections

Detailed information

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

Guidelines
Emergency guidelines
Français (2020.pdf) - Orphanet Urgences
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