Macrophage Activation Syndrome Complicated by Toxic Epidermal Necrolysis Following SARS-CoV-2 mRNA Vaccination
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 28, 2022 Category: Allergy & Immunology Source Type: research
Correction to: Recurrent Infections in an Ethiopian Boy with Autosomal Recessive Major Histocompatibility Complex Type I Deficiency: a Case Report on a Very Rare Primary Immunodeficiency Disorder and a Review of Principles in Evaluation and Management
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 17, 2022 Category: Allergy & Immunology Source Type: research
Efficacy and Safety of Interferon-Gamma in Chronic Granulomatous Disease: a Systematic Review and Meta-analysis
DiscussionThe results from this meta-analysis support the use of IFN- γ in the treatment of patients with CGD. However, we found insufficient clinical evidence and believe more clinical trials are needed to better assess the efficacy and long-term safety of IFN-γ. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 16, 2022 Category: Allergy & Immunology Source Type: research
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan
ConclusionLarge deletions were the most common genetic cause of ART-SCID in Japan. To improve HCT outcome, early diagnosis with newborn screening for SCID is urgently needed. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 16, 2022 Category: Allergy & Immunology Source Type: research
Increased Hazard Risk of First Malignancy in Adults with Undetectable Serum IgE: a Retrospective Cohort Study
ConclusionCompared to individuals with detectable IgE levels, patients with undetectable total serum IgE had increased risk and hazard of first malignancy in general, and increased risk of hematologic malignancy in particular. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 16, 2022 Category: Allergy & Immunology Source Type: research
BT595, a 10% Human Normal Immunoglobulin, for Replacement Therapy of Primary Immunodeficiency Disease: Results of a Subcohort Analysis in Children
ConclusionBT595 is effective, convenient, well tolerated, and safe for the treatment of children with PID.Trial registrationEudraCT: 2015 –003652-52; NCT02810444, registered June 23, 2016. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 16, 2022 Category: Allergy & Immunology Source Type: research
A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation
ConclusionsA GOF variant inIKBKB may associate with autoinflammation and autoimmunity highlighting a novel clinical phenotype. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 15, 2022 Category: Allergy & Immunology Source Type: research
B-cell Immunodeficiency in a Patient with Pearson Syndrome
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 15, 2022 Category: Allergy & Immunology Source Type: research
SPENCD Presenting with Evans Phenotype and Clinical Response to JAK1/2 Inhibitors —a Report of 2 Cases
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 14, 2022 Category: Allergy & Immunology Source Type: research
Safety of mRNA COVID-19 Vaccines in Patients with Inborn Errors of Immunity: an Italian Multicentric Study
ConclusionAlthough our follow-up period is relatively short, the safety data we reported are reassuring. This data would help to contrast the vaccine hesitancy often manifested by patients with IEI and to better inform their healthcare providers. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 14, 2022 Category: Allergy & Immunology Source Type: research
Pathogenic Interleukin-10 Receptor Alpha Variants in Humans — Balancing Natural Selection and Clinical Implications
AbstractBalancing natural selection is a process by which genetic variants arise in populations that are beneficial to heterozygous carriers, but pathogenic when homozygous. We systematically investigated the prevalence, structural, and functional consequences of pathogenicIL10RA variants that are associated with monogenic inflammatory bowel disease. We identify 36 non-synonymous and non-sense variants in theIL10RA gene. Since the majority of theseIL10RA variants have not been functionally characterized, we performed a systematic screening of their impact on STAT3 phosphorylation upon IL-10 stimulation. Based on the geogra...
Source: Journal of Clinical Immunology - November 12, 2022 Category: Allergy & Immunology Source Type: research
Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients
ConclusionThe thesis projects and collaborations were beneficial as they allowed us to provide a definitive genetic diagnosis to 29% of the patients and to contribute to the identification of new genetic defects and mutations. These results offer insight into the progress made in genetic diagnoses of IEI in Morocco, which would provide a baseline for improving the clinical management of patients with IEI. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 11, 2022 Category: Allergy & Immunology Source Type: research
Functional STAT3 Deficiency from Co-Localization with SMAD2/3 Can Account for Infective Predisposition and Hyper IgE-like Manifestation in Loeys-Dietz Syndrome
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 9, 2022 Category: Allergy & Immunology Source Type: research
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia
AbstractHereditary
angioedema (HAE) is a potentially life-threatening autosomal dominant disorder affecting roughly 1:50,000 individuals. It is commonly characterized by swelling of the larynx, gastrointestinal tract, extremities, and skin. There is growing genetic heterogeneity associated with this disease but more than 95% of mutations are found inSERPING1, the gene which encodes complement 1 inhibitor (C1-INH). HAE cohorts from several populations have been published but no large scale study has been reported from the Arab world to date. Here we document the clinical and genetic findings of HAE patients from a singl...
Source: Journal of Clinical Immunology - November 8, 2022 Category: Allergy & Immunology Source Type: research
CD40LG Triplication Associates with Immune Dysregulation and Exhaustion
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 8, 2022 Category: Allergy & Immunology Source Type: research
