Journal of Clinical Immunology

Severe Adverse Reaction to Measles Vaccine Due to Homozygous Mutation in the IFNAR2 Gene: A Case Report and Literature Review

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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

Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings – the PIDCAP Project

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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

Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis

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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

Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm

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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

Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS)

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J Clin Immunol. 2024 Oct 10;45(1):23. doi: 10.1007/s10875-024-01812-8. ABSTRACT OBJECTIVE: FAS gene defects lead to autoimmune lymphoproliferative syndrome (ALPS), which is often inherited in an autosomal dominant and rarely in an autosomal recessive manner. We report a case of a newborn girl with novel compound heterozygous variants in FAS and reveal the underlying mechanism. METHODS: … Read more

Granulomas in Common Variable Immunodeficiency Display Different Histopathological Features Compared to Other Granulomatous Diseases

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J Clin Immunol. 2024 Oct 7;45(1):22. doi: 10.1007/s10875-024-01817-3. ABSTRACT Granulomatous disease affects up to 20% of patients with Common Variable Immunodeficiency (CVID). Granulomas are comprised of highly activated immune cells, and emerge in response to antigenic triggers. In CVID granulomas however, the underlying pathophysiology is unclear and the specific trigger remains unknown. Granuloma formation in … Read more

First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation

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J Clin Immunol. 2024 Oct 4;45(1):21. doi: 10.1007/s10875-024-01811-9. ABSTRACT BACKGROUND: ISG15 deficiency is a mixed syndrome of Mendelian susceptibility to mycobacterial infections (MSMD), a rare inherited condition characterized primarily by recurrent infections from low-virulence mycobacteria and monogenic type I interferonopathy. OBJECTIVE: To characterize the laboratory and molecular features of two patients from different families affected … Read more

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