Term Name: | immunodeficiency 50 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0112001] ( DOID:0112001 ) |