Delayed Diagnosis of X-linked Lymphoproliferative Syndrome Type 2 in a 17-year-old Male With Severe Crohn's Disease and Recurrent Skin Infections. Issue 3 (12th August 2021)

• Record Type: Journal Article
• Authors: Zacharias, Stephanie A.; Seshadri, Priyanka; Hwang, Sharon; Baker, Laura; Powell, Jonathan; Fernando del Rosario, J.; Molle-Rios, Zarela
• Is Part Of: JPGN reports. Volume 2:Issue 3(2021)
• Page Start: e102
• Publication Date: 2021-08-12
• Subjects: XIAP deficiency -- primary immunodeficiency disease -- hematopoietic stem cell transplantation; Pediatric gastroenterology -- Periodicals; Children -- Nutrition -- Periodicals; Children -- Nutrition; Pediatric gastroenterology; Infant Nutritional Physiological Phenomena; Child Nutritional Physiological Phenomena; Gastrointestinal Diseases; Infant; Child; Periodicals; Periodical; Case Reports; 618.9233
• DOI: 10.1097/PG9.0000000000000102
• Languages: English
• ISSNs: 2691-171X

Abstract

Abstract : X-linked lymphoproliferative syndrome type 2 (XLP2) is a rare genetic primary immunodeficiency disease caused by mutations in the XIAP gene that lead to deficiency of the X-linked inhibitor of apoptosis protein. XLP2 is characterized by dysregulated immune responses and can result in an inflammatory bowel disease (IBD)-like phenotype, a form of monogenic IBD. Patients with XLP2 often succumb to fulminant hemophagocytic lymphohistiocytosis or Epstein-Barr virus infections. Hematopoietic stem cell transplantation (HSCT) is currently the only definitive treatment for XLP2. We report an adolescent with a delayed diagnosis of XLP2 in the setting of severe Crohn's disease diagnosed at age 9 years and recurrent skin infections. He is under evaluation for HSCT. Gastroenterologists must recognize monogenic IBD in patients of all ages with severe disease and signs of an underlying primary immunodeficiency disease. Patients with suspected monogenic IBD should undergo immunologic and genetic analysis at diagnosis to initiate potentially life-saving treatment.