ReviewJournal of clinical immunology2015
X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome.
Review in Journal of clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 107 citations in OpenAlex.
- Relationship between Epstein-Barr virus and inflammatory bowel disease.World journal of gastroenterology · 2025Review
- Late presentation of X-linked inhibitor of apoptosis (XIAP) deficiency in a young adult.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025Article
- Comprehensive flow cytometry-based diagnosis of XIAP deficiency.Clinical and experimental immunology · 2025Article
- Etiologies and long-term outcome of pediatric hemophagocytic lymphohistiocytosis and macrophage activation syndrome in Taiwan: a single-center retrospective study.Frontiers in immunology · 2025Article
- Understanding very early onset inflammatory bowel disease (VEOIBD) in relation to inborn errors of immunity.Immunological reviews · 2024Review
- Genetics of Primary Hemophagocytic Lymphohistiocytosis.Advances in experimental medicine and biology · 2024Review
- Novel XIAP mutation with early-onset Crohn's disease complicated with acute heart failure: a case report.BMC cardiovascular disorders · 2023Article
- Beyond IBD: the genetics of other early-onset diarrhoeal disorders.Human genetics · 2023Review
- XIAP deletion sensitizes mice to TNF-induced and RIP1-mediated death.Cell death & disease · 2023Article
- When to suspect inborn errors of immunity in Epstein-Barr virus-related lymphoproliferative disorders.Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases · 2023Review
- Pharmacologic Management of Monogenic and Very Early Onset Inflammatory Bowel Diseases.Pharmaceutics · 2023Review
- Caspase-8-driven apoptotic and pyroptotic crosstalk causes cell death and IL-1β release in X-linked inhibitor of apoptosis (XIAP) deficiency.The EMBO journal · 2023Article
- Too much of a good thing: a review of primary immune regulatory disorders.Frontiers in immunology · 2023Review
- Activation-induced pyroptosis contributes to the loss of MAIT cells in chronic HIV-1 infected patients.Military Medical Research · 2022Article
- Linking Genetic Diagnosis to Therapeutic Approach in Very Early Onset Inflammatory Bowel Disease: Pharmacologic Considerations.Paediatric drugs · 2022Review
- Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.Journal of clinical immunology · 2022Article
- A Review of the Current Impact of Inhibitors of Apoptosis Proteins and Their Repression in Cancer.Cancers · 2022Review
- Epstein-Barr Virus Prevalence at Diagnosis and Seroconversion during Follow-Up in Pediatric Inflammatory Bowel Disease.Journal of clinical medicine · 2021Article
- Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.Clinical and experimental immunology · 2021Review
- Infection-induced inflammation from specific inborn errors of immunity to COVID-19.The FEBS journal · 2021Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked inhibitor of apoptosis (XIAP) deficiency (also known as X-linked lymphoproliferative syndrome type 2, XLP-2) is a rare primary immunodeficiency. Since the disease was first described in 2006, more than 70 patients suffering from XIAP-deficiency have been reported, thus extending the clinical presentations of the disease. The main clinical features of XLP-2 are (i) elevated susceptibility to hemophagocytic lymphohistiocytosis (HLH, frequently in response to infection with Epstein-Barr virus (EBV)), (ii) recurrent splenomegaly and (iii) inflammatory bowel disease (IBD) with the characteristics of Crohn's disease. XIAP deficiency is now considered to be one of the genetic causes of IBD in infancy. Although XIAP is an anti-apoptotic molecule, it is also involved in many other pathways, including the regulation of innate immunity and inflammation. XIAP is required for signaling through the Nod-like receptors NOD1 and 2, which are intracellular sensors of bacterial infection. XIAP-deficient T cells (including innate natural killer T cells and mucosal-associated invariant T cells) are overly sensitive to apoptosis. NOD2 function is impaired in XIAP-deficient monocytes. However, the physiopathological mechanisms underlying the clinical phenotypes in XIAP deficiency, notably the HLH and the EBV susceptibility, are not well understood. Here, we review the clinical aspects, molecular etiology and physiopathology of XIAP deficiency.
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