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Post-SARS-CoV-2 Atypical Inflammatory Syndrome in a Toddler with X-Linked Inhibitor of Apoptosis Deficiency After Stem Cell Transplant
A 10-month-old boy was diagnosed with X-linked lymphoproliferative syndrome type 2 due to X-linked inhibitor of apoptosis deficiency after presenting...
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Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence
PurposeX-linked inhibitor of apoptosis protein (XIAP) deficiency, also known as the X-linked lymphoproliferative syndrome of type 2 (XLP-2), is a...
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Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis
Epstein-Barr virus (EBV) infection can lead to infectious mononucleosis (EBV-IM) and, more rarely, EBV-associated hemophagocytic lymphohistiocytosis...
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Inborn Errors of Immunity—the Sri Lankan Experience 2010–2022
PurposeInborn errors of immunity (IEI) are typically monogenic. Data from the Indian subcontinent are relatively scarce. This paper evaluates IEI...
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Molecular Mechanisms of Severe Diseases Caused by Epstein-Barr Virus Infection
Purpose of ReviewEpstein-Barr virus (EBV) is a ubiquitous virus that infects > 90% of individuals. EBV has been linked to severe conditions such as...
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HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum
Magnesium transporter 1 (MAGT1) gene loss-of-function variants lead to X-linked MAGT1 deficiency with increased susceptibility to EBV infection and...
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Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients
Hemophagocytic lymphohistiocytosis (HLH) is a clinical syndrome of life-threatening inflammation caused by an excessive, prolonged and ineffective...
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Allogeneic Hematopoietic cell Transplantation Using Alemtuzumab in Asian Patients with Inborn Errors of Immunity
Alemtuzumab is used with reduced-toxicity conditioning (RTC) in allogeneic hematopoietic cell transplantation (HCT), demonstrating efficacy and...
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Non-osteopenic Bone Pathology After Allo-hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity
PurposeThere is a lack of data on post-HSCT non-osteopenic bone pathology specifically for children with inborn errors of immunity (IEI). We...
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Malignancies in Inborn Errors of Immunity
Inborn errors of immunity (IEI), also known as primary immunodeficiencies (PIDs), are heterogeneous group of genetic disorders with various clinical...
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The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay
Hematological malignancies (HM) developed on underlying primary immunodeficiencies (PID) are rare and of unusual features. Differentiating between...
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Letter D
Dalziel’s syndrome (Dalziel’s disease)“I have pleasure in drawing your attention to this condition, which, I think, has not yet been fully...
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Autoinflammatory Syndromes
Autoinflammatory diseases consist of a wide variety of immune-mediated processes. The telltale signature of these processes is compromised innate...
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Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report
BackgroundX-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic...
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Vaccination for Patients with Inborn Errors of Immunity: a Nationwide Survey in Japan
We conducted a nationwide survey of inborn errors of immunity (IEI) in Japan for the second time in 10 years, focusing on protective measures for IEI...
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Experience with a Reduced Toxicity Allogeneic Transplant Regimen for Non-CGD Primary Immune Deficiencies Requiring Myeloablation
PurposeA need exists for reduced toxicity conditioning regimens that offer less toxicity while maintaining myeloablation, especially for primary...
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Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report
PurposeX-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in the XIAP/BIRC4 gene is a rare inherited primary immunodeficiency also...