Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0112001 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models