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GTR Home > Conditions/Phenotypes > Immunodeficiency 23

Immunodeficiency 23

Synonyms
IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT; IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity (summary by Bjorksten and Lundmark, 1976 and Zhang et al., 2014). [from OMIM]

Available tests

30 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGM1, IMD23, PAGM, PGM 3, PGM3
    Summary: phosphoglucomutase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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