Journal of Clinical Immunology

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

Health Care Utilisation in a Cohort of Patients with Primary and Secondary Antibody Deficiency in the United Kingdom

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J Clin Immunol. 2024 Sep 27;45(1):18. doi: 10.1007/s10875-024-01809-3. ABSTRACT INTRODUCTION: This study investigates the frequency of hospital attendances, emergency care attendances and geographical influences on service interaction in cohorts of patients with primary and secondary antibody deficiency, to inform future service planning and delivery. METHODS: The COVID-19 in Antibody Deficiency (COV-AD) study was a United … Read more

Characteristics of Endemic Mycoses Talaromyces marneffei Infection Associated with Inborn Errors of Immunity

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J Clin Immunol. 2024 Sep 26;45(1):17. doi: 10.1007/s10875-024-01798-3. ABSTRACT BACKGROUND: Talaromyces marneffei (T. marneffei) is an opportunistic pathogen that causes endemic mycoses, which could lead to multiple organ damage. Talaromycosis is frequently disregarded as an early cautionary sign of immune system disorders in non-HIV-infected children. OBJECTIVE: We conduct a comprehensive review of the genotypes and … Read more

Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndrome

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J Clin Immunol. 2024 Sep 25;45(1):16. doi: 10.1007/s10875-024-01807-5. ABSTRACT Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF), is a rare disease with autosomal recessive inheritance. ICF syndrome. It has been reported that ICF syndrome is caused by mutations in the DNMT3B (ICF1), ZBTB24 (ICF2), CDCA7 (ICF3), and HELLS (ICF4) genes. As a result of literature … Read more

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