Journal of Clinical Immunology

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs

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J Clin Immunol. 2024 Nov 23;45(1):48. doi: 10.1007/s10875-024-01843-1. ABSTRACT We studied a family with three male individuals across two generations affected by common variable immune deficiency (CVID). We identified a novel missense heterozygous variant (c.2602T>A:p.Y868N) of NFKB2 in all patients and not in healthy relatives. Functional studies of the mutant allele in an overexpression system … Read more

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency

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J Clin Immunol. 2024 Nov 23;45(1):47. doi: 10.1007/s10875-024-01833-3. ABSTRACT TRAF3, a versatile adaptor protein within the TRAF family, participates in various signaling pathways involving the tumor necrosis factor receptor, toll-like receptor, and retinoic acid-inducible gene I-like receptor families. In 2010, autosomal dominant TRAF3 deficiency was reported in a patient with herpes simplex virus-1 encephalitis, consistent … Read more

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency

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J Clin Immunol. 2024 Nov 23;45(1):46. doi: 10.1007/s10875-024-01831-5. ABSTRACT PURPOSE: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance. It has been identified in hundreds of patients but copy … Read more

Similar Kinetics of Pulmonary SARS-CoV-2 Load in Intensive Care Unit Patients with COVID-19 Pneumonia with or Without Autoantibodies Neutralizing Type I Interferons

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J Clin Immunol. 2024 Nov 20;45(1):45. doi: 10.1007/s10875-024-01839-x. ABSTRACT PURPOSE: The pathogenesis of life-threatening coronavirus disease 2019 (COVID-19) pneumonia in ICU patients can involve pre-existing auto-antibodies (auto-Abs) neutralizing type I interferons (IFNs). The impact of these auto-Abs on SARS-CoV-2 clearance in the lower respiratory tract (LRT) is unclear. METHODS: We performed a retrospective study in … Read more

Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control

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J Clin Immunol. 2024 Nov 15;45(1):42. doi: 10.1007/s10875-024-01837-z. ABSTRACT PURPOSE: Netherton syndrome (NS) is a rare inborn error of immunity (IEI) with an incidence of approximately 1:200,000 and the phenotypic triad of trichorrhexis invaginate (bamboo hair), congenital ichthyosiform erythroderma, and multiple atopic manifestations. Treatment options especially in infants are scarce and generally not licensed. METHODS: … Read more

Outcomes of X-Linked Agammaglobulinaemia Patients

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J Clin Immunol. 2024 Nov 14;45(1):40. doi: 10.1007/s10875-024-01829-z. ABSTRACT BACKGROUND: X-linked agammaglobulinaemia (XLA), caused by mutations in BTK, is characterised by low or absent peripheral CD19 + B lymphocytes and agammaglobulinaemia. The mainstay of treatment consists of immunoglobulin replacement therapy (IgRT). As this cannot fully compensate for the immune defects in XLA, patients may therefore … Read more

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