X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic

Conclusion: The overall characteristics of SAP deficiency in mainland China were consistent with those in previous reports, whereas manifestations of XIAP deficiency varied significantly. None of inflammatory bowel disease (IBD) has been reported among XIAP-deficient patients in our center; however, whether Chinese XIAP-deficient patients will develop colitis in the future warrants further investigation. HSCT is the only curative therapy for XLP and this therapy should be urgently considered.What is Known:•SAP and XIAP deficiencies share common clinical feature,HLH,whereas they also have their own specific manifestations.•IBD affects 25–30% of XIAP-deficient patients,which has been reported in other countries especially in European country and Japan.What is New:•This is the largest patient cohort study of XLP in China.•We firstly summarized the clinical features and outcomes of Chinese XIAP-deficient patients and found only 1 in 22 patients developed IBD and diet background may contribute to it; Asian SAP-deficient patients carrying SH2D1A R55X mutation were more prone to HLH.
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research