Term Name: immunodeficiency 99
Synonyms: immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
Definition: A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11.
Ontology: Human Disease [DOID:0061069]   ( DOID:0061069 )

Relationships
is a type of: autosomal recessive disease combined T cell and B cell immunodeficiency