inmunoadmin

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

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia

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J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. ABSTRACT PURPOSE: PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus) and gastrointestinal (inflammatory bowel disease and multiple intestinal atresia) manifestations. Although features consistent with immunodeficiency (autoimmunity/autoinflammation and recurrent infections) have been reported in a subset … Read more

Levels of Natural Antibodies Before and After Immunoglobulin Replacement Treatment Affect the Clinical Phenotype in Common Variable Immunodeficiency

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J Clin Immunol. 2024 Sep 21;45(1):13. doi: 10.1007/s10875-024-01805-7. ABSTRACT Natural antibodies (NAbs) occurring in individuals without prior exposure to specific antigens, provide direct first barrier protection against pathogens, and exert immunoregulation thus actively contributing to the maintenance of immune homeostasis, controlling inflammatory processes and preventing autoimmunity. Common variable immunodeficiency (CVID) is a heterogeneous group of … Read more

Machine Learning of Laboratory Data in Predicting 30-Day Mortality for Adult Hemophagocytic Lymphohistiocytosis

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J Clin Immunol. 2024 Sep 20;45(1):12. doi: 10.1007/s10875-024-01806-6. ABSTRACT BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) carries a high mortality rate. Current existing risk-evaluation methodologies fall short and improved predictive methods are needed. This study aimed to forecast 30-day mortality in adult HLH patients using 11 distinct machine learning (ML) algorithms. METHODS: A retrospective analysis on 431 adult … Read more

Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries

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J Clin Immunol. 2024 Sep 19;45(1):11. doi: 10.1007/s10875-024-01801-x. NO ABSTRACT PMID:39297999 | PMC:PMC11413082 | DOI:10.1007/s10875-024-01801-x

Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency

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J Clin Immunol. 2024 Sep 18;45(1):10. doi: 10.1007/s10875-024-01803-9. ABSTRACT PURPOSE: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) encodes a widely expressed cytosolic protein that participates in polarized vesicle trafficking. Homozygous loss-of-function LRBA mutations can lead to immune deficiency due to the lack of immune regulation, classified as a part of Tregopathies. We present a case of a … Read more

Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey

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J Clin Immunol. 2024 Sep 16;45(1):9. doi: 10.1007/s10875-024-01791-w. ABSTRACT PURPOSE: Immunodysregulation, Polyendocrinopathy, Enteropathy, and X-linked syndrome (IPEX), caused by pathogenic FOXP3 variants, is a rare autoimmune disorder with diverse clinical features, including early-onset diabetes, eczema, and enteropathy. Atypical cases show milder symptoms and unique signs, requiring different treatments. Therefore, there are ambiguities in the accurate … Read more

Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan

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J Clin Immunol. 2024 Sep 12;45(1):6. doi: 10.1007/s10875-024-01795-6. ABSTRACT BACKGROUND: IL10RA (IL10 receptor subunit alpha) deficiency is an autosomal recessive disease that causes inflammatory bowel disease during early infancy. Its clinical course is often fatal and the only curative treatment is allogeneic hematopoietic cell transplantation (HCT). In Japan, only case reports are available, and there … Read more

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