agammaglobulinemia 9

Term ID

DOID:0081141

Synonyms

Definition

An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. https://pubmed.ncbi.nlm.nih.gov/32384040/

References

• MIM:619693

Ontology

Human Disease   ( DOID:0081141 )