Introduction
The X-linked inhibitor of apoptosis (XIAP) deficiency, also known as the X-linked lymphoproliferative syndrome type 2 (XLP-2) , is rare primary immunodeficiency.We report a patient who had XIAP gene defect and presented with very early onset inflammatory bowel disease and recurrent hemophagocytic lympohistiocytosis (HLH).
Case Report
The patient who had chronic diarrhea and history of HLH was referred to our hospital for further evaluation at 8 months of age. Chronic diarrhea was started when he is 40 days old and he suffered from a HLH episode at two months of age.
In his follow up ,bone marrow aspiration was done due to prolonged fewer and hemophagocytosis was detected. Pulse methylprednisolone (mpz) and intravenosus immunoglobulin( 400 mg/kg/day) was administered. We continued with 1mg/kg mpz colonoscopy revealed , multiple, lineer ulcers covered with white membranes in the rectum.
In the follow-up we performed next generation sequencing analysis for primary immunodeficiency diseases, and a homozygous c.518G>A (p.Trp173Ter) XIAP gene defect was found.
XIAP deficiency should be considered in patients presenting with very early onset inflammatory bowel disease and recurrent HLH. Early diagnosis and hematopoietic stem cell treatment will decrease the risk of life threatening complications.