Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation
ConclusionThe practice of HSCT in IEI has been changing in Russia. Expanding indications to HSCT and SCID newborn screening implementation may necessitate additional transplant beds for IEI in Russia. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 3, 2023 Category: Allergy & Immunology Source Type: research
Foreword to the English Translation of Kostmann ’s Memoirs
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 3, 2023 Category: Allergy & Immunology Source Type: research
“The Regimental Pediatrician”: Forewords and Background
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 3, 2023 Category: Allergy & Immunology Source Type: research
Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis
ConclusionsWe report three Colombian patients with disseminated cryptococcosis associated with neutralizing auto-Abs against GM-CSF. Further studies should evaluate the genetic contribution to anti-GM-CSF autoantibody production and the role of the GM-CSF signaling pathway in the immune response toCryptococcus spp. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 23, 2023 Category: Allergy & Immunology Source Type: research
Real-World Evidence of Tolerability of 20% Subcutaneous Immunoglobulin Treatment
ConclusionThese findings demonstrate tolerability and successful self-administration of Ig20Gly in PIDD, including elderly patients and patients starting IGRT de novo. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 21, 2023 Category: Allergy & Immunology Source Type: research
Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 21, 2023 Category: Allergy & Immunology Source Type: research
Interferon- α-2b Nasal Spray for Treating SARS-CoV-2 Omicron Variant-Infected Children
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 21, 2023 Category: Allergy & Immunology Source Type: research
A Cohort Study on Deficiency of ADA2 from China
ConclusionTo establish early diagnosis and improve clinical outcomes, genetic screening and/or testing of ADA2 enzymatic activity should be performed in patients with suspected clinical features. TNFi is considered as first line treatment for those with vascular phenotypes. HSCT may be beneficial for those with hematological disease or in those who are refractory to TNFi. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 18, 2023 Category: Allergy & Immunology Source Type: research
Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 18, 2023 Category: Allergy & Immunology Source Type: research
COVID-19 and Mixed Cryoglobulinemia Syndrome: Long-Term Survey Study on the Prevalence and Outcome, Vaccine Safety, and Immunogenicity
ConclusionsThe present survey revealed an increased prevalence and morbidity of COVID-19 in MCs patients, as well an impaired immunogenicity even after booster vaccination with high rate of no response. Therefore, MCs can be included among frail populations at high risk of infection and severe COVID-19 manifestations, suggesting the need of a close monitoring and specific preventive/therapeutical measures during the ongoing pandemic. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 16, 2023 Category: Allergy & Immunology Source Type: research
The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages
ConclusionOur results demonstrated that gene mutations involved in human B cell terminal stage development mainlyLRBA gene defect have the highest association with autoimmunity. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 15, 2023 Category: Allergy & Immunology Source Type: research
Inborn Errors of Immunity in the Republic of Moldova: Advances and Hope
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 9, 2023 Category: Allergy & Immunology Source Type: research
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2
ConclusionOur data indicate an impaired negative regulatory role of STAT2 p.(A219V) in IFN-I signalling and that mutations in STAT2 resulting in a type I interferonopathy state are not limited to the previously reported R148 residue. Indeed, structural modelling highlights at least 3 further residues critical to mediating a STAT2-USP18 interaction, in which mutations might be expected to result in defective negative feedback regulation of IFN-I signalling. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 8, 2023 Category: Allergy & Immunology Source Type: research
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications
ConclusionSignificant immunodeficiencies were observed in our cohort, particularly in B cells and antibodies. Our study expands the current clinical understanding and emphasizes the need of immunological studies and multidisciplinary approaches for these patients. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 3, 2023 Category: Allergy & Immunology Source Type: research
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 2, 2023 Category: Allergy & Immunology Source Type: research
