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GTR Home > Conditions/Phenotypes > Combined immunodeficiency due to moesin deficiency

Combined immunodeficiency due to moesin deficiency

Synonyms
IMMUNODEFICIENCY 50, X-LINKED RECESSIVE; Immunodeficiency 50
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016). [from OMIM]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HEL70, IMD50, MSN
    Summary: moesin

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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