The following are lists of curated research from PubMed. We expect this to be of help to those clinicians or researchers new to XIAP/XLP2. Where possible we have provided links to the full paper, but for some papers you may need to access the paper via your institutions paid log-in. The papers included here have publication dates of 2018 onwards.
Last updated - 11th February 2025
2024 - USA - X-Linked Lymphoproliferative Disease
2023 - USA - When to Suspect Inborn errors of Immunity in Epstein-Barr virus-related Lymphoproliferative disorders
2022 - USA - Does shining a spotlight on XIAP deficiency bring the role of allogeneic HCT into better focus?
2022 - China - X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic
2021 - Japan - Intestinal outcome of bone marrow transplantation for monogenic inflammatory bowel disease
2021 - USA - Evolution of Our Understanding of XIAP Deficiency
2021 - Japan - Hematopoietic Cell Transplantation Rescues Inflammatory Bowel Disease and Dysbiosis of Gut Microbiota in XIAP Deficiency
2021 - South Korea - Interpretation of XIAP Variants of Uncertain Significance in Paediatric Patients with Refractory Crohn’s Disease
2021 - France - Late-Onset Progressive Multifocal Leukoencephalopathy (PML) and Lymphoma in a 65-Year-Old Patient with XIAP Deficiency
2020 - USA - Expanding clinical spectrum of female X-linked lymphoproliferative syndrome 2
2024 - China - Haploidentical Hematopoietic Stem Cell Transplantation for Paediatric Patients with X-linked Lymphoproliferative Syndrome
2023 - Germany - JAKi Salvage Therapy Followed by Curative Cord Blood Transplantation in a XIAP-Deficient Infant with Relapsing HLH
2023 - China - Novel XIAP mutation with early-onset Crohn’s disease complicated with acute heart failure: a case report
2023 - USA - Delayed post-COVID-19 hemophagocytic lymphohistiocytosis in patient with XIAP deficiency
2023 - Japan - Alemtuzumab-based reduced-intensity conditioning for XIAP deficiency
2022 - Canada - A Case of XIAP Deficiency Successfully Managed with Tadekinig Alfa (rhIL-18BP)
2022 - Japan - Intestinal outcome of bone marrow transplantation for monogenic inflammatory bowel disease
2022 - Japan - Absent X-linked inhibitor of apoptosis protein expression in T cell blasts and causal mutations including non-coding deletion
2021 - France - Late-Onset Progressive Multifocal Leukoencephalopathy (PML) and Lymphoma in a 65-Year-Old Patient with XIAP Deficiency
2021 - USA - Expanding clinical spectrum of female X‐linked lymphoproliferative syndrome 2
2020 - China - Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report
2020 - China - Eosinophilic colitis in a boy with a novel XIAP mutation: a case report
2020 - Japan - Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency
2020 - Czech Republic - Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn’s disease
2019 - Iran - Different phenotypes of the same XIAP mutation in a family: A case of XIAP deficiency with juvenile idiopathic arthritis
2019 - Japan - Gastrointestinal: Endoscopic balloon dilations for an intestinal stricture in a patient with X-linked inhibitor of apoptosis deficiency
2018 - China - Langerhans cell histiocytosis complicated with hemophagocytic lymphohistiocytosis in a boy with a novel XIAP mutation: A case report
2018 - UK - Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease
2018 - China - X-linked inhibitor of apoptosis deficiency manifested as Crohn's disease: a case report and literature review
2025 - USA - Insights into the Absence of Lymphoma Despite Fulminant Epstein-Barr Virus Infection in Patients with XIAP Deficiency
2024 - USA - Interleukin-1 mediated hyperinflammation in XIAP-deficiency is associated with defective autophagy
2024 - Argentina - CD62-L down-regulation after L18-MDP stimulation as a complementary flow cytometry functional assay for the diagnosis of XIAP deficiency
2024 - South Korea - Understanding the molecular mechanism of pathogenic variants of BIR2 domain in XIAP-deficient inflammatory bowel disease
2023 - Australia - Caspase‐8‐driven apoptotic and pyroptotic crosstalk causes cell death and IL‐1β release in X‐linked inhibitor of apoptosis (XIAP) deficiency
2023 - UK - Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency
2023 - USA - XIAP deletion sensitizes mice to TNF-induced and RIP1-mediated death
2022 - USA - Quercetin ameliorates XIAP deficiency–associated hyperinflammation
2022 - Canada - XIAP promotes the expansion and limits the contraction of CD8 T cell response through cell extrinsic and intrinsic mechanisms respectively
2022 - Japan - Maternal Gonosomal Mosaicism Causes XIAP Deficiency
2022 - Switzerland - Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1
2022 - USA - Quercetin ameliorates XIAP deficiency–associated hyperinflammation
2022 - France - Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence
2021 - Switzerland - XIAP restrains TNF-driven intestinal inflammation and dysbiosis by promoting innate immune responses of Paneth and dendritic cells
2021 - UK - Paneth cell dysfunction and the intestinal microbiome in XIAP deficiency
2020 - Germany - Regulation of Cell Death and Immunity by XIAP
2019 - Germany - XIAP deficiency in hematopoietic recipient cells drives donor T‐cell activation and GvHD in mice
2019 - Switzerland - TNFR2 induced priming of the inflammasome leads to a RIPK1-dependent cell death in the absence of XIAP
2018 - Taiwan - IL-6 receptor blockade corrects defects of XIAP-deficient regulatory T cells
2018 - Germany - Inhibitor of apoptosis proteins are required for effective fusion of autophagosomes with lysosomes
2018 - USA - Unique BIR domain sets determine inhibitor of apoptosis protein–driven cell death and NOD2 complex signal specificity
