Search Ontology:
Human Disease
immunodeficiency 50
- Term ID
- DOID:0112001
- Synonyms
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- CID due to Moesin deficiency
- combined immunodeficiency due to Moesin deficiency
- IMD50
- immunodeficiency 50 X linked recessive
- MSN-related combined immunodeficiency
- X-linked Moesin-associated immunodeficiency
- Definition
- A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. https://pubmed.ncbi.nlm.nih.gov/27405666/
- References
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- MIM:300988
- ORDO:504530
- Ontology
- Human Disease ( DOID:0112001 )
- is a type of
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Genes Involved
Zebrafish Models