immunodeficiency 50 (DOID:0112001)
Alliance: disease page
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
Alt IDs: OMIM:300988, ORDO:504530
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.