agammaglobulinemia 10

Term ID

DOID:0081142

Synonyms

Definition

An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. https://pubmed.ncbi.nlm.nih.gov/32384040/

References

• OMIM:619707

Ontology

Human Disease   ( DOID:0081142 )