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Hyper-IgM syndrome type 2

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ORPHA:101089

Classification level: Subtype of disorder

Synonym(s):
  • AID deficiency
  • Activation-induced cytidine deaminase deficiency
  • HIGM2

Prevalence: -

Inheritance: Autosomal recessive

Age of onset:

ICD-10: D80.5

ICD-11: 4A01.05

OMIM: 605258

UMLS: C1720956

GARD: 10578

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)

General public
Article for general public
Français (2007.pdf) - IPOPI
Deutsch (2007.pdf) - IPOPI
Ελληνικά (2007.pdf) - IPOPI
English (2007.pdf) - IPOPI
Eesti (2007.pdf) - IPOPI
Español (2007.pdf) - IPOPI
Русский (2007.pdf) - IPOPI
Română (2007.pdf) - IPOPI
العربية (2007.pdf) - IPOPI
Português (2007.pdf) - IPOPI
Guidelines
Emergency guidelines
Français (2020.pdf) - Orphanet Urgences
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website 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.