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P134 Clinical, Morphological and Histological Features of X-linked Lymphoproliferative Syndrome Type 2 Enteritis Diagnosed in three Cases with Childhood Onset Inflammatory Bowel Disease

T. Ogashiwa*1, R. Kunisaki1, H. Yasuhara1, S. Tsuda1, R. Koh1, K. Yazawa1, K. Goto1, H. Kimura1, A. Sugita2, M. Mori3, M. Tanaka4, H. Kanegane5, S. Maeda6

1Yokohama City University Medical centre, Inflammatory Bowel Disease Centre, Yokohama, Japan, 2Yokohama Municipal Citizen’s Hospital, Department of Inflammatory Bowel Disease, Yokohama, Japan, 3Yokohama City University Medical centre, Department of Pediatrics, Yokohama, Japan, 4Hirosaki City Hospital, Department of Pathology and Laboratory Medicine, Hirosaki, Japan, 5Graduate School of Medicine, University of Toyama, Department of Pediatrics, Toyama, Japan, 6Yokohama City University Graduate School of Medicine, Yokohama, Department of Gastroenterology, Yokohama, Japan


Inherited immunodeficiency cases are rare, but need to be differentiated from childhood onset inflammatory bowel disease (IBD). X-linked lymphoproliferative syndrome type 2 (XLP2) is a recently recognized immunodeficiency condition. Thirty-seven cases with complicating gastroenteritis resembling IBD have been reported, but there is inadequate knowledge on XLP2 enteritis. We describe clinical course, morphological and histological features of XLP2 diagnosed in cases with childhood onset IBD.


Case 1, a 7-year-old boy was diagnosed with distal ulcerative colitis (UC), and with Crohn's disease (CD) at the age of 9 based on the appearance of duodenal and longitudinal ulcers in the distal colon refractory to immunosuppressive therapy. Further, haemophagocytotic lymphohistiocytosis (HLH) appeared 4 times during infliximab therapy. Because of his brother's history of HLH, immunodeficiency syndrome was doubted, but genetic analysis revealed XLP2. At the age of 13, ileostomy was done due to his intractable clinical course. He has been well for 2 years. Case 2, a 50-year-old man, the maternal uncle of Case 1. He was diagnosed with UC at the age of 14, and had undergone proctocolectomy due to his intractable clinical course at the age of 16. At the age of 23, he was diagnosed with CD based on anal fistula, and longitudinal ulcers in the small-intestine. He required 6 times surgery due to intractable clinical course, including multiple internal-fistulae, and died of pneumonia, age 50. Case 3, a 13-year-old boy was diagnosed with colonic CD. Immunosuppressive therapy failed to control his enteritis, and HLH occurred after IFX therapy. He was diagnosed with XLP2, and received bone marrow transplantation in 2014. To characterise the features of XLP2 enteritis in these 3 cases, we looked at the clinical course, the distribution of intestinal lesions, endoscopic and pathological findings, and response to medications.


In these 3 cases, the average age at the onset of enteritis was 10 years and a family history of HLH and XLP2 existed. Endoscopy showed fragile rectal mucosa and shallow longitudinal ulcers in the distal colon, but no lesion was found in the right colon. Histologically, granuloma was detected in one case, whereas basal plasmacytosis characterizing IBD was not found in 3 cases. Two cases developed HLH after receiving infliximab.


To our knowledge this is the first report on the clinical features of XLP2 enteritis. The Results suggest that a diagnosis of XLP2 should be considered for severe refractory childhood onset CD, especially those showing predominant appearance in the distal colon and develop HLH during infliximab therapy.