Suppression of Type I Interferon Signaling in Myeloid Cells by Autoantibodies in Severe COVID-19 Patients
ConclusionAuto-abs to type I IFN found in COVID-19 patients inhibited IFN signaling in dendritic cells and monocytes by blocking the binding of type I IFN to its receptor. The failure to properly induce production of an antibody to SARS-CoV-2 may be a causative factor of COVID-19 severity. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 22, 2024 Category: Allergy & Immunology Source Type: research
Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis
In this study, we used single-cell RNA sequencing to characterize the immune landscape of EBV-HLH and compared it with EBV-IM. Three pediatric p atients with EBV-HLH with different backgrounds, one with X-linked lymphoproliferative syndrome type 1 (XLP1), two with chronic active EBV disease (CAEBV), and two patients with EBV-IM were enrolled. TheTUBA1B + STMN1 + CD8 + T cell cluster, a responsive proliferating cluster with rich mRNA detection, was explicitly observed in EBV-IM, and the upregulation ofSH2D1A—the gene responsible for XLP1—was localized in this cluster. This proliferative cluster was scarcely...
Source: Journal of Clinical Immunology - April 20, 2024 Category: Allergy & Immunology Source Type: research
Phenotypic and Immunological Characterization of Patients with Activated PI3K δ Syndrome 1 Presenting with Autoimmunity
ConclusionsThe pathogenic immune phenotype of APDS1 patients included (1) deceased CD3+ T-cell and B-cell counts and increased IgG levels in patients with autoimmunity, (2) an imbalanced T helper cell subset, (3) increased proportions of autoreactive B cells, and (4) distinct autoantibody reactivities in patients with autoimmunity. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 18, 2024 Category: Allergy & Immunology Source Type: research
Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center
ConclusionsThe high minimal estimated IEI prevalence at 16.2/100,000 Jordanian children compared to the regional and worldwide data, with the diversities in clinical presentation and distribution of IEI categories in our cohort point to unique features of IEI in Jordanian children, call for national registry establishment, regional and international collaborative networks. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 17, 2024 Category: Allergy & Immunology Source Type: research
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 16, 2024 Category: Allergy & Immunology Source Type: research
Mendelian Causes of Autoimmunity: the Lupus Phenotype
AbstractSystemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by its large heterogeneity in terms of clinical presentation and severity. The pathophysiology of SLE involves an aberrant autoimmune response against various tissues, an excess of apoptotic bodies, and an overproduction of type-I interferon. The genetic contribution to the disease is supported by studies of monozygotic twins, familial clustering, and genome-wide association studies (GWAS) that have identified numerous riskloci. In the early 70s, complement deficiencies led to the description of familial forms of SLE caused by ...
Source: Journal of Clinical Immunology - April 15, 2024 Category: Allergy & Immunology Source Type: research
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3
We report two patients with homozygous hypomorphicJAK3 variants and clinical features of Omenn syndrome. One patient had a previously described JAK3R775H variant, and the second had a novel JAK3R431P variant. One patient with a novel JAK3R431P variant had normal expression of JAK3 in immortalised EBV-LCL cells but reduced phosphorylation of STAT5 after stimulation with IL-2, IL-7, and IL-15 consistent with impaired kinase activity. These results suggest the JAK3R431P variant to be hypomorphic. Both patients are alive and well after allogeneic haematopoietic stem cell transplantation. They have full donor chimerism, restitu...
Source: Journal of Clinical Immunology - April 10, 2024 Category: Allergy & Immunology Source Type: research
Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform
ConclusionIn this study, we identified a novel rare synonymous mutation causing a loss of IL-7R α expression at the cellular membrane. This case demonstrates the value of reanalyzing genetic data based on the clinical phenotype and highlights the significance of functional studies in determining the pathogenicity of genetic variants. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 8, 2024 Category: Allergy & Immunology Source Type: research
Treatment of Progressive Multifocal Leukoencephalopathy with IL-2 and Mirtazapine
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 8, 2024 Category: Allergy & Immunology Source Type: research
Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children
ConclusionThis study highlights the importance of early diagnosis and distribution ofITG ß2 gene mutation in Egyptian children. Further molecular studies, however, remain a challenging necessity for better disease characterization in the region. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 5, 2024 Category: Allergy & Immunology Source Type: research
22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features
We report that the patient ’s serum significantly impairs barrier function of the 22qDS BBB compared to control. Only two other cases of pediatric SCLS with neurologic symptoms have been reported, and genetic risk factors have been suggested in both instances. As the third case to be reported, our findings are consistent wi th the hypothesis that genetic susceptibility of the BBB conferred by genes such as claudin-5 deleted in the 22q11.2 region promoted neurologic involvement during SCLS in this patient. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 5, 2024 Category: Allergy & Immunology Source Type: research
Monozygotic Twins with MAGT1 Deficiency and Epstein –Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 5, 2024 Category: Allergy & Immunology Source Type: research
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment
AbstractThe ubiquitin –proteasome system (UPS) has a critical role in post-translational protein modification that is essential for the maintenance of all cellular functions, including immune responses. The proteasome complex is ubiquitously expressed and is responsible for degradation of short-lived structurally abnor mal, misfolded and not-needed proteins that are targeted for degradation via ubiquitin conjugation. Over the last 14 years, an increasing number of human diseases have been linked to pathogenic variants in proteasome subunits and UPS regulators. Defects of the proteasome complex or its chaperons – which...
Source: Journal of Clinical Immunology - April 5, 2024 Category: Allergy & Immunology Source Type: research
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF
ConclusionsIn a patient with STAT1 GOF, ruxolitinib treatment improved autoimmune features and downregulated aberrantly overexpressed ISGs, but did not correct epigenetic abnormality of ISGs. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 5, 2024 Category: Allergy & Immunology Source Type: research
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report
ConclusionVaccination for COVID-19 in the IEI population appears safe and attenuates COVID-19 severity. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 5, 2024 Category: Allergy & Immunology Source Type: research
