immunodeficiency 50

Term ID

DOID:0112001

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. https://pubmed.ncbi.nlm.nih.gov/27405666/

References

• OMIM:300988
• ORDO:504530

Ontology

Human Disease   ( DOID:0112001 )