familial hemophagocytic lymphohistiocytosis type 3 (HPLH3)

Genetics

• caused by defects in the UNC13D gene

Clinical manifestations

• phenotypically homogeneous & indistinguishable from HPLH2

More general terms

• familial histiocytic reticulosis

Database

• OMIM: https://mirror.omim.org/entry/608898