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Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency.

Abstract：

:X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency characterized by increased vulnerability to Epstein-Barr virus infection. XLP type 1 is caused by mutations in SH2D1A, whereas X-linked inhibitor of apoptosis (XIAP) encoded by XIAP/BIRC4 is mutated in XLP type 2. In XIAP deficiency, hemophagocytic lymphohistiocytosis (HLH) occurs more frequently and recurrence is common. However, the underlying mechanisms remain mostly unknown. We describe the characteristics of the cytokine profiles of serum samples from 10 XIAP-deficient patients. The concentration of interleukin (IL)-18 was strikingly elevated in the patients presented with HLH, and remained high after the recovery from HLH although levels of other pro-inflammatory cytokines approached the normal range. Longitudinal examination of two patients demonstrated marked exacerbation of IL-18 levels during every occasion of HLH. These findings may suggest the association between HLH susceptibility and high serum IL-18 levels in XIAP deficiency.

journal_name

Cytokine

journal_title

Cytokine

authors

Wada T,Kanegane H,Ohta K,Katoh F,Imamura T,Nakazawa Y,Miyashita R,Hara J,Hamamoto K,Yang X,Filipovich AH,Marsh RA,Yachie A

doi

10.1016/j.cyto.2013.09.007

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

74-8

issue

1

eissn

1043-4666

issn

1096-0023

pii

S1043-4666(13)00685-6

journal_volume

65

pub_type

杂志文章

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