Journal of Clinical Immunology

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

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

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

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

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

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

J Clin Immunol. 2024 Oct 23;45(1):32. doi: 10.1007/s10875-024-01818-2. ABSTRACT Distinguishing between primary (PID) and secondary (SID) immunodeficiencies, particularly in relation to hematological B-cell lymphoproliferative disorders (B-CLPD), poses a major clinical challenge. We aimed to analyze and define the clinical and laboratory variables in SID patients associated with B-CLPD, identifying overlaps with late-onset PIDs, which could … Read more

J Clin Immunol. 2024 Oct 23;45(1):31. doi: 10.1007/s10875-024-01826-2. ABSTRACT PURPOSE: A causal role of type-I interferons (IFN-I) in autoinflammatory type-I interferonopathies such as SAVI (STING-associated vasculopathy with onset in infancy) and CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures) is suggested by elevated expression of IFN-I stimulated genes (ISGs). Hitherto, the lack of … Read more

J Clin Immunol. 2024 Oct 22;45(1):28. doi: 10.1007/s10875-024-01822-6. ABSTRACT Purpose – The Latin American Society of Immunodeficiencies (LASID) Registry was established in 2009 to collect data on Inborn Errors of Immunity (IEI) patients in the region. Although several reports have been published regarding LASID data, this is the first report of the entire dataset. Methods … Read more

J Clin Immunol. 2024 Oct 22;45(1):29. doi: 10.1007/s10875-024-01820-8. NO ABSTRACT PMID:39436495 | DOI:10.1007/s10875-024-01820-8