The following are lists of curated research from PubMed. We expect this to be of help to those clinicians or researchers new to XIAP or 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 - 02nd July 2024
2024 - India - X-Linked Lymphoproliferative Syndrome: A Spectrum of Clinical and Immunological Profile and Novel Pathogenic Variants from Chandigarh, India
2023 - USA - When to Suspect Inborn errors of Immunity in Epstein-Barr virus-related Lymphoproliferative disorders
2023 - UK - Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition
2022 - USA - Does shining a spotlight on XIAP deficiency bring the role of allogeneic HCT into better focus?
2022 - UK - Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency
2022 - USA - Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD
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
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 - An efficient diagnosis: A patient with X-linked inhibitor of apoptosis protein (XIAP) deficiency in the setting of infantile hemophagocytic lymphohistiocytosis was diagnosed using high serum interleukin-18 combined with common laboratory parameters
2022 - USA - Post-SARS-CoV-2 Atypical Inflammatory Syndrome in a Toddler with X-Linked Inhibitor of Apoptosis Deficiency After Stem Cell Transplant
2022 - Japan - Intestinal outcome of bone marrow transplantation for monogenic inflammatory bowel disease
2021 - USA - Delayed Diagnosis of X-linked Lymphoproliferative Syndrome Type 2 in a 17-year-old Male With Severe Crohn's Disease and Recurrent Skin Infections
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 - Epstein-Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis protein (XIAP) variant: a case report
2020 - China - The role of allogeneic hematopoietic stem cell transplantation and Epstein-Barr virus infection on the treatment for child primary hemophagocytic lymphohistiocytosis patients with X-linked lymphoproliferative disease: A rare case report and family survey study
2020 - China - Eosinophilic colitis in a boy with a novel XIAP mutation: a case report
2020 - Japan - X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis: A case report
2020 - Japan - Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency
2020 - Japan - High-throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma-like post-transplant lymphoproliferative disorder
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 - USA - Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review
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
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 - 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
