Journal of Clinical Immunology

Outcomes of X-Linked Agammaglobulinaemia Patients

by

J Clin Immunol. 2024 Nov 14;45(1):40. doi: 10.1007/s10875-024-01829-z. ABSTRACT BACKGROUND: X-linked agammaglobulinaemia (XLA), caused by mutations in BTK, is characterised by low or absent peripheral CD19 + B lymphocytes and agammaglobulinaemia. The mainstay of treatment consists of immunoglobulin replacement therapy (IgRT). As this cannot fully compensate for the immune defects in XLA, patients may therefore … Read more

A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia

by

J Clin Immunol. 2024 Nov 5;45(1):38. doi: 10.1007/s10875-024-01816-4. ABSTRACT Chronic neutropenia causes involve nutritional deficiencies and inborn errors of immunity(IEI), such as severe congenital neutropenia. To classify common chronic neutropenia causes in a pediatric immunology unit. We enrolled 109 chronic neutropenia patients admitted to a pediatric immunology department between 2002-2022. We recorded clinical/laboratory features and … Read more

Endophilin A2 Deficiency Impairs Antibody Production in Humans

by

J Clin Immunol. 2024 Nov 5;45(1):37. doi: 10.1007/s10875-024-01827-1. ABSTRACT Endophilin A2, the sole endophilin A family member expressed in hematopoietic cells, regulates various aspects of membrane dynamics, including autophagy and endocytosis. Recent studies in rodents highlight the essential role of endophilin A2 in modulating immune responses. Here we report a homozygous frameshift variant in the … Read more

Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome

by

J Clin Immunol. 2024 Oct 30;45(1):36. doi: 10.1007/s10875-024-01828-0. ABSTRACT BACKGROUND: Netherton syndrome (NS) is a rare, severe genetic skin disorder, currently classified as an inborn error of immunity (IEI) due to previously reported immune dysregulation. We recently reported the results of an immunological evaluation showing no evidence for a relevant B- and/or T-cell mediated immunodeficiency, … Read more

Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party

by

J Clin Immunol. 2024 Oct 29;45(1):35. doi: 10.1007/s10875-024-01819-1. ABSTRACT C1q deficiency is a rare inborn error of immunity characterized by increased susceptibility to infections and autoimmune manifestations mimicking SLE, with an associated morbidity and mortality. Because C1q is synthesized by monocytes, to date, four patients treated with allogeneic HSCT have been reported, with a positive … Read more

Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis

by

J Clin Immunol. 2024 Oct 28;45(1):34. doi: 10.1007/s10875-024-01810-w. ABSTRACT BACKGROUND: Patients with inborn errors of immunity (IEI) are susceptible to developing cancer due to defects in the immune system. The prevalence of cancer is higher in IEI patients compared to the immunocompetent population and cancers are considered as an important and common cause of death … Read more

A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity

by

J Clin Immunol. 2024 Oct 25;45(1):33. doi: 10.1007/s10875-024-01821-7. ABSTRACT PURPOSE: Newborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has made a substantial contribution to public healthcare by facilitating the detection of neonates with genetic disorders. Here, we investigated the applicability of non-targeted quantitative proteomics analysis to … Read more

deneme bonusu veren siteler - canlı bahis siteleri - casino siteleri casino siteleri deneme bonusu veren siteler canlı casino siteleri cURL Hatası: Could not resolve host: lkl.dolarkurum.com