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immunodeficiency 50 (DOID:0112001)
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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
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/05/2024
MGI 6.24 		The Jackson Laboratory