XLP1 - Reviews

• 2022 - Japan - Pre-emptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1
• 2022 - UK - Patients with XLP type 1 have variable numbers of NKT cells
• 2022 - USA - When to suspect inborn errors of immunity in Epstein-Barr virus-related lymphoproliferative disorders
• 2020 - China -X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic

XLP1 - Case Studies

• 2024 - India - X-Linked Lymphoproliferative Syndrome: A Spectrum of Clinical and Immunological Profile and Novel Pathogenic Variants from Chandigarh, India
• 2023 - Japan - X-linked lymphoproliferative syndrome associated with Epstein-Barr virus encephalitis and lymphoproliferative disorder
• 2022 - China - Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report
• 2022 - South Korea - Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1
• 2022 - China -Potential pathogenic mechanism of type 1 X-linked lymphoproliferative syndrome caused by a mutation of SH2D1A gene in an infant: A case report
• 2021 - USA - Two Clonally Distinct B-Cell Lymphomas Reveal the Diagnosis of XLP1 in a Male Child and His Asymptomatic Male Relatives: Case Report and Review of the Literature
• 2021 - Austria - Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation
• 2021 - Switzerland - X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children-A Case Report
• 2021 - China - Fatal unexpected death due to X-linked lymphoproliferative 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
• 2020 - UK - Different Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations
• 2020 - Latvia - X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases
• 2020 - India - X-linked Lymphoproliferative Disease (XLP1) Presenting as Non-Epstein Barr Virus (EBV) - Related Hemophagocytic Lymphohistiocytosis (HLH)
• 2020 - USA - The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor
• 2020 - Sweden - Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease
• 2019 - Japan - An 18-Year-Old Male With X-linked Lymphoproliferative Syndrome Type 1 Who Developed Primary Central Nervous System Lymphoma 6 Months After Primary Epstein-Barr Virus Infection
• 2019 - Israel - Management of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations
• 2018 - Japan - Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1
• 2018 - USA - EBV Infection in XLP1 Manifested Solely by Behavioral Aggression and Effective Treatment Using Rituximab
• 2018 - China - Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report

XIAP - Reviews

• 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 - USA - When to suspect inborn errors of immunity in Epstein-Barr virus-related lymphoproliferative disorders
• 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

XIAP - Case Studies

• 2024 - Japan - Allogeneic Hematopoietic Cell Transplantation Ameliorated Asymptomatic Granulomatous and Lymphocytic Interstitial Lung Disease in a Patient With XIAP Deficiency
• 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
• 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
• 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
• 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]

XLP1 & XIAP - Country Studies

2024 - India - X-Linked Lymphoproliferative Syndrome: A Spectrum of Clinical and Immunological Profile and Novel Pathogenic Variants from Chandigarh, India

2022 - China - X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic