FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term immunodeficiency 50 ID (Ontology) DOID:0112001 (Human Disease)
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.
Also Known As "CID due to Moesin deficiency" ; "combined immunodeficiency due to Moesin deficiency" ; "IMD50" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 immunodeficiency 50       1
 for disease ribbon | immunodeficiency 50       1
 model of | immunodeficiency 50       1
Spanning Tree (Parents/Children)
Only view relationship: 
X-linked monogenic disease
 |__X-linked recessive disease____
primary immunodeficiency disease  |
 |__combined immunodeficiency_____|
                                  immunodeficiency 50  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a X-linked recessive disease
combined immunodeficiency
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "CID due to Moesin deficiency" EXACT
    "combined immunodeficiency due to Moesin deficiency" EXACT
    "IMD50" EXACT OMO:0003012
    "immunodeficiency 50 X linked recessive" EXACT
    "MSN-related combined immunodeficiency" EXACT
    "X-linked Moesin-associated immunodeficiency" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:300988
ORDO:504530