OBO ID: DOID:0112001
Term Name: immunodeficiency 50 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0112001 )
Relationships
is a type of:
OTHER immunodeficiency 50 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MSN Immunodeficiency 50 300988
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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