Term Name: immunodeficiency 61
Synonyms: IMD61
Definition: A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12.
Ontology: Human Disease [DOID:0111999]   ( DOID:0111999 )

Relationships
is a type of: autosomal recessive disease B cell deficiency