OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition
AbstractHere, we describe an adult female with severe fasciitis and skin necrosis who carried a private, predicted deleterious missense mutation inOTULIN in heterozygosity. OTULIN is a cellular regulator of deubiquitination that has been shown to play a key role in intrinsic immunity against staphylococcal α-toxin. The patient was treated with broad-spectrum antibiotics, and multiple surgical explorations were conducted without clinical response. Since autoinflammation was the predominant clinical feature, TNF inhibition was started with a good clinical response. We show that excessive inflammation i n OTULIN haploinsuffi...
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment
We examined a large national registry of patients with CVID to better characterize this population and understand how the presence of enteropathy influences nutritional status, patient function, and the risk of additional non-infectious disorders in CVID patients. We also sought to illustrate the range of treatment strategies for CVID-associated enteropathies. We extracted patient data from the United States Immunodeficiency Network (USIDNET) database, which included 1415 patients with CVID, and compared those with and without intestinal disorders. Demographic and genetic profiles, functional status, and treatments targeti...
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Impact of Exposure to Vaccination and Infection on Cellular and Antibody Response to SARS-CoV-2 in CVID Patients Through COVID-19 Pandemic
ConclusionThis data shows an increase of adaptive immunity in CVID after mRNA vaccination in parallel to boosters, accrual number of exposures and formation of hybrid immunity. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome
ConclusionThe ICF syndrome encompasses various manifestations affecting multiple end organs. Perturbed T-cell responses with increased cTFH and decreased Treg cells may provide further insight into the immune aberrations observed in ICF syndrome. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC
ConclusionsThe clinical and cellular phenotype of the current case of AR IL-17RC deficiency supports a previous report on this rare disorder. Our newly established evaluation system will be useful for the diagnosis of AR IL-17RC deficiency, providing accurate validation of unknownIL17RC variants. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
A Phase 1 Open-Label Study to Assess the Tolerability, Safety, and Immunogenicity of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 20% in Healthy Adults
ConclusionfSCIG 20% was well-tolerated with a favorable safety profile in healthy adults. Future studies will evaluate fSCIG 20% in primary immunodeficiency diseases.Trial registration number (ClinicalTrials.gov): NCT05059977 (registered 28 September 2021). (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Chest Computed Tomography Characteristics of Critically Ill COVID-19 Patients with Auto-antibodies Against Type I Interferons
ConclusionThere was no significant difference in disease severity as evaluated by chest CT in severe COVID-19 patients admitted to the ICU for hypoxemic acute respiratory failure with or without anti-IFN auto-Abs. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Plasma Levels of mir-34a-5p Correlate with Systemic Inflammation and Low Na ïve CD4 T Cells in Common Variable Immunodeficiency
ConclusionCollectively, our data show that microRNAs correlate with the inflammatory response in CVID. Further investigations are needed to elucidate the role of miRNAs in the development of CVID-related immune dysregulation. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Pediatric Necrobiotic Xanthogranuloma as a Novel Phenotype of IKAROS Gain of Function
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
The Human GP130 Cytokine Receptor and Its Expression —an Atlas and Functional Taxonomy of Genetic Variants
AbstractGenetic variants inIL6ST encoding the shared cytokine receptor for the IL-6 cytokine family GP130 have been associated with a diverse number of clinical phenotypes and disorders. We provide a molecular classification for 59 reported rareIL6ST pathogenic or likely pathogenic variants and additional polymorphisms. Based on loss- or gain-of-function, cytokine selectivity, mono- and biallelic associations, and variable cellular mosaicism, we grade six classes ofIL6ST variants and explore the potential for additional variants. We classify variants according to the American College of Medical Genetics and Genomics criter...
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Isolated Full Donor T-Cell Chimerism After Haploidentical TCR αβ/CD19 Depleted HSCT Maintains Remission of Familial HLH
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Duplication of Exons 8 –9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Inborn Errors of Immunity and Efforts to Diagnose Affected Children in the Absence of Training and Specialty Practice in Clinical Immunology in Ethiopia: a Brief Report
This report summarizes the existing epidemiology of inborn errors of immunity in Ethiopia, unique presentations in Ethiopian children, challenges faced in diagnosing them, and efforts to improve their management. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Four-Year-History of Recurrent Fever, Skin Lesions, and Liver Abscesses in a Patient with Common Variable Immune Deficiency due to Helicobacter cinaedi Infection
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
