A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees

الملخص EN

The X-linked hyperimmunoglobulin M syndrome (HIGM), caused by mutations in the CD40LG gene, is a kind of primary immunodeficiency disease (PID).

Patients with X-linked HIGM are susceptible to infection as well as autoimmune diseases.

Lipoma arborescens (LA) is a rare benign tumor, of which the pathogenesis mechanism has not been clearly understood.

We report a case of HIGM combined with LA in a 22-year-old male patient.

A new deletion mutation of CD40LG gene was detected in this case.

The possible relationship between HIGM and LA was also discussed.