Table 2 Literature retrieval: clinical phenotypes frequency of XIAP deficiency

IBD [5,6,7,8,9,10,11,12,13,14]

n = 11(33.33)

46.27

Prolonged 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)

28.79

Persistent fever、pancytopenia、EBV infection、hepatosplenomegaly、lymphadenopathy

GLILD and granulomatous hepatitis [2]

n = 1(3.03)

240

Progressive cough、dyspnea

Uveitis [3, 5]

n = 2(6.06)

144

Decreased visual acuity、arthralgias、abdominal pain、weight loss、sinus infection

Juvenile idiopathic arthritis [4]

n = 1(3.03)

60

Prolonged fever、pancytopenia、generalized macular rash、periodic abdominal pains

Hypogammaglobulinemia [25]

n = 1(3.03)

N

Hypoimmunity

Langerhans cell histiocytosis [26]

n = 1(3.03)

13

Recurrent ear discharge、fever、 hemorrhagic papules、 hepatosplenomegaly

Asymptomatic [25]

n = 1(3.03)

N

No clinical manifestation