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immunodeficiency 50
Summary
- Synonym
-
- CID due to Moesin deficiency
- IMD50
- MSN-related combined immunodeficiency
- X-linked Moesin-associated immunodeficiency
- combined immunodeficiency due to Moesin deficiency
- immunodeficiency 50 X linked recessive
- 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.
- Super Class
- X-linked recessive disease combined immunodeficiency
External Links
- Disease Ontology
- DOID:0112001
- Mondo Disease Ontology
- ORDO
- OMIM
