Evolution of our understanding of XIAP deficiency

ACA Mudde, C Booth, RA Marsh - Frontiers in Pediatrics, 2021 - frontiersin.org
X-linked inhibitor of apoptosis (XIAP) deficiency is a rare inborn error of immunity first
described in 2006. XIAP deficiency is characterised by immune dysregulation and a broad …

Targeting RIP kinases in chronic inflammatory disease

M Speir, TM Djajawi, SA Conos, H Tye, KE Lawlor - Biomolecules, 2021 - mdpi.com
Chronic inflammatory disorders are characterised by aberrant and exaggerated
inflammatory immune cell responses. Modes of extrinsic cell death, apoptosis and …

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

L Yang, C Booth, C Speckmann, MG Seidel… - Journal of Allergy and …, 2022 - Elsevier
Background X-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary
immunodeficiency disease caused by XIAP gene mutations. A broad range of phenotype …

Reduced-intensity/reduced-toxicity conditioning approaches are tolerated in XIAP deficiency but patients fare poorly with acute GVHD

DE Arnold, R Nofal, C Wakefield, K Lehmberg… - Journal of Clinical …, 2022 - Springer
X-linked inhibitor of apoptosis (XIAP) deficiency is an inherited primary immunodeficiency
characterized by chronic inflammasome overactivity and associated with hemophagocytic …

[HTML][HTML] X-linked inhibitor of apoptosis (XIAP) deficiency presenting as hemophagocytic lymphohistiocytosis triggered by drug allergy

A Khojah, A Bukhari, A Khanolkar, I Khojah… - Clinical Immunology …, 2023 - Elsevier
X-linked inhibitor of apoptosis (XIAP) deficiency is a primary immunodeficiency associated
with recurrent hemophagocytic lymphohistiocytosis (HLH) episodes. The clinical phenotypes …

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

J Tang, X Zhou, L Wang, G Hu, B Zheng, C Wang, Y Lu… - BMC pediatrics, 2020 - Springer
Background X-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary
immunodeficiency disease characterized by haemophagocytic lymphohistiocytosis …

[PDF][PDF] Clinical Immunology Communications

A Khojah, L Gunderman, A Bukhari, M Schutt… - Clinical …, 2022 - researchgate.net
abstract X-linked inhibitor of apoptosis (XIAP) deficiency is a primary immunodeficiency
associated with recurrent hemophagocytic lymphohistiocytosis (HLH) episodes. The clinical …

青少年X 连锁凋亡抑制因子缺陷1 例报告并文献复习

刘婷, 谢永武, 曾萍 - 临床儿科杂志, 2020 - jcp.xinhuamed.com.cn
目的分析X 连锁凋亡抑制因子(XIAP) 缺陷的诊断和治疗. 方法回顾分析1 例XIAP
缺陷患儿的临床资料, 并进行文献复习. 结果男性患儿, 5 岁5 个月起病, 以反复发热 …