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Table 2 Literature retrieval: clinical phenotypes frequency of XIAP deficiency

From: Eosinophilic colitis in a boy with a novel XIAP mutation: a case report

Disease phenotypeCase number (%)Mean age of
onset (months)
Clinical feature
IBD [5,6,7,8,9,10,11,12,13,14]n = 11(33.33)46.27Prolonged fever、abdominal pain、diarrhea with or without blood and mucus、growth failure、perianal desease、anemia、recurrent infection、hepatosplenomegaly
HLH [15,16,17,18,19,20,21,22,23,24]n = 15(45.45)28.79Persistent fever、pancytopenia、EBV infection、hepatosplenomegaly、lymphadenopathy
GLILD and granulomatous hepatitis [2]n = 1(3.03)240Progressive cough、dyspnea
Uveitis [3, 5]n = 2(6.06)144Decreased visual acuity、arthralgias、abdominal pain、weight loss、sinus infection
Juvenile idiopathic arthritis [4]n = 1(3.03)60Prolonged fever、pancytopenia、generalized macular rash、periodic abdominal pains
Hypogammaglobulinemia [25]n = 1(3.03)NHypoimmunity
Langerhans cell histiocytosis [26]n = 1(3.03)13Recurrent ear discharge、fever、 hemorrhagic papules、 hepatosplenomegaly
Asymptomatic [25]n = 1(3.03)NNo clinical manifestation
  1. IBD Inflammatory Bowel Disease, HLH Hemophagocytic lymphohistiocytosis, GLILD granulomatous lymphocytic interstitial lung disease, EBV Epstein–Barr virus, N: not mentioned