Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)
ConclusionsThalidomide can control the inflammation of SIFD and represents a new treatment for SIFD. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 2, 2023 Category: Allergy & Immunology Source Type: research
Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 27, 2023 Category: Allergy & Immunology Source Type: research
Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan
ConclusionThese results highlight the significance of the 10 warning signs and may serve as clinical indicators for early diagnosis, considering the initial presentation of IEI. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 20, 2023 Category: Allergy & Immunology Source Type: research
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
ConclusionGreater than 80% of BCG patients have PID; accordingly, gene sequencing should be performed in patients with BCG disease for early diagnosis. BCG disease behaves differently in patients with different types of PID. Patients without identified genetic etiology had similar outcomes to PID patients, which hints that they may have pathogenic gene mutations that need to be discovered. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 20, 2023 Category: Allergy & Immunology Source Type: research
Correction to: De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE ‑1 Element Insertion Resulting in Chronic Granulomatous Disease
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 20, 2023 Category: Allergy & Immunology Source Type: research
Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 18, 2023 Category: Allergy & Immunology Source Type: research
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family
In conclusion, beside the variant c.1525C > T in theFERMT3 gene, which was previously found in more than 15 patients in Anatolia, our study is the first to identify the novel homozygous variant c.921delC in theFERMT3 gene. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 17, 2023 Category: Allergy & Immunology Source Type: research
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
Abstract
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) and coloboma, heart defect, atresia choanae, retardation of growth and development, genital hypoplasia, ear anomalies/deafness (CHARGE) syndrome. Practice variations affect the initial and subsequent assessment of immune function, the terminology used to describe the condition and immune status, the accepted criteria for recommending live vaccines, and how of...
Source: Journal of Clinical Immunology - January 17, 2023 Category: Allergy & Immunology Source Type: research
STING-Associated Vasculopathy with Onset in infancy (SAVI) Presenting as Massive Intra Alveolar Hemorrhage
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 17, 2023 Category: Allergy & Immunology Source Type: research
Severe Periodontitis in Adults with Chronic Granulomatous Disease
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 13, 2023 Category: Allergy & Immunology Source Type: research
Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 12, 2023 Category: Allergy & Immunology Source Type: research
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds
ConclusionSevere forms of tuberculosis and complications of BCG vaccination may imply a genetic predisposition present in the Moroccan population. In the presence of these infections, systematic genetic studies became necessary. BCG vaccination is contraindicated in MSMD patients and should be delayed in newborn siblings until the exclusion of a genetic predisposition to mycobacteria. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 11, 2023 Category: Allergy & Immunology Source Type: research
Distinct Lymphocyte Immunophenotyping and Quantitative Anti-Interferon Gamma Autoantibodies in Taiwanese HIV-Negative Patients with Non-Tuberculous Mycobacterial Infections
ConclusionIn patients with suspected adult-onset immunodeficiency syndrome, two thirds (20/31) were recognized as having significantly inhibitory AutoAbs-IFN- γ with higher antibody-enhancing transitional, CD19 + CD21-low and plasmablast B cells; as well as higher effector memory, senescent CD8 + CD57 + and Th17 cells, but lower naïve T and Treg cells in contrast to those with negligible AutoAbs-IFN-γ. Such immunophenotyping disturbances mi ght correlate with the presence of AutoAbs-IFN-γ. However, the mutual mechanisms need to be further clarified. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 10, 2023 Category: Allergy & Immunology Source Type: research
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome
We describe a large genetically diagnosed IPEX cohort (n = 65) and 13 individuals with other monogenic autoimmunity subtypes in whom we quantified the proportion of cells with FOXP3 TSDR demethylation, normalized to the number with CD4 demethylation (%TSDR/CD4) and compare them to 29 unaffected controls. IPEX patients presenting with isolated diabete s (50/65, 77%) often later developed enteropathy (20/50, 40%) with a median interval of 23.5 weeks. %TSDR/CD4 was a good discriminator of IPEX vs. unaffected controls (ROC-AUC 0.81, median 13.6% vs. 8.5%,p < 0.0001) with higher levels of demethylation associated w...
Source: Journal of Clinical Immunology - January 5, 2023 Category: Allergy & Immunology Source Type: research
Systemic Lupus Erythematosus in Shwachman-Diamond Syndrome: a Novel Phenotype
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 4, 2023 Category: Allergy & Immunology Source Type: research
