Journal of Clinical Immunology

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

Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti

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J Clin Immunol. 2024 Sep 12;45(1):1. doi: 10.1007/s10875-024-01799-2. ABSTRACT PURPOSE: Genetic hypomorphic defects in X chromosomal IKBKG coding for the NF-κB essential modulator (NEMO) lead to ectodermal dysplasia and immunodeficiency in males and the skin disorder incontinentia pigmenti (IP) in females, respectively. NF-κB essential modulator (NEMO) Δ-exon 5-autoinflammatory syndrome (NEMO-NDAS) is a systemic autoinflammatory disease … 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

Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders

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J Clin Immunol. 2024 Sep 12;45(1):4. doi: 10.1007/s10875-024-01797-4. ABSTRACT High ferritin is an important and sensitive biomarker for the various forms of hemophagocytic lymphohistiocytosis (HLH), a diverse and deadly group of cytokine storm syndromes. Early action to prevent immunopathology in HLH often includes empiric immunomodulation, which can complicate etiologic work-up and prevent collection of early/pre-treatment … Read more

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