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

J Clin Immunol. 2024 Oct 22;45(1):30. doi: 10.1007/s10875-024-01814-6. ABSTRACT Receiving the measles vaccination is crucial for controlling the disease and preventing severe complications. However, adverse reactions can occur in individuals with inborn errors of immunity. This case report details a severe reaction to the measles vaccine in a ten-month-old female with a homozygous mutation in … Read more

J Clin Immunol. 2024 Oct 21;45(1):27. doi: 10.1007/s10875-024-01824-4. NO ABSTRACT PMID:39433707 | DOI:10.1007/s10875-024-01824-4

J Clin Immunol. 2024 Oct 21;45(1):26. doi: 10.1007/s10875-024-01825-3. ABSTRACT Early diagnosis of inborn errors of immunity (IEIs) has been shown to reduce mortality, morbidity, and healthcare costs. The need for early diagnosis has led to the development of computational tools that trigger earlier clinical suspicion by physicians. Primary care professionals serve as the first line … Read more

J Clin Immunol. 2024 Oct 15;45(1):25. doi: 10.1007/s10875-024-01823-5. ABSTRACT Inborn errors of immunity (IEI) are a heterogeneous group of genetic diseases characterized by impaired immune system function. This prospective study aimed to determine the frequency, characteristics, and clinical course of IEI patients admitted to the pediatric intensive care unit (PICU) and identify mortality-related factors. Using … Read more

J Clin Immunol. 2024 Oct 15;45(1):24. doi: 10.1007/s10875-024-01815-5. ABSTRACT X-linked agammaglobulinemia (XLA) due to a mutation in Bruton’s tyrosine kinase (BTK), leads to the arrested development of B cells at the pro-B cell stage. This results in absent B cells and severe hypogammaglobulinemia. XLA patients usually present with recurrent sinopulmonary infection. Bacterial infections are the … Read more