An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia
ConclusionBased on the concept in which IgRT is the standard treatment for XLA, HCT may be an effective and safe alternative treatment option for XLA patients, and IgRT can be discontinued following transplantation. It is ideal to perform HCT in XLA patients for whom transplantation is indicated before they develop organ damage. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - July 16, 2023 Category: Allergy & Immunology Source Type: research
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years ’ Experience
AbstractA significant complication of HSCT is graft failure, although few studies focus on this problem in patients with inborn errors of immunity (IE). We explored outcome of second HSCT for IEI by a retrospective, single-centre study between 2002 and 2022. Four hundred ninety-three patients underwent allogeneic HSCT for severe combined immunodeficiency (SCID;n = 113, 22.9%) or non-SCID IEI (n = 380, 77.1%). Thirty patients (6.0%) required second HSCT. Unconditioned infusion or no serotherapy at first HSCT was more common in patients who required second transplant. Median interval between first and second HSCT was...
Source: Journal of Clinical Immunology - July 14, 2023 Category: Allergy & Immunology Source Type: research
Chronic Granulomatous Disease: a Cohort of 173 Patients —10-Years Single Center Experience from Egypt
ConclusionAR-CGD is predominant in Egypt; CGD must always be ruled out in any patient presenting with typical or atypical mycobacterial or BCG-disease. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - July 11, 2023 Category: Allergy & Immunology Source Type: research
Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - July 11, 2023 Category: Allergy & Immunology Source Type: research
Hyper-IgD Syndrome: Caused by Deficiency on Ras Prenylation and Trained Immunity?
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - July 7, 2023 Category: Allergy & Immunology Source Type: research
Infection and Vaccine Induced Spike Antibody Responses Against SARS-CoV-2 Variants of Concern in COVID-19-Na ïve Children and Adults
AbstractAlthough a more efficient adaptive humoral immune response has been proposed to underlie the usually favorable outcome of pediatric COVID-19, the breadth of viral and vaccine cross-reactivity toward the ever-mutating Spike protein among variants of concern (VOCs) has not yet been compared between children and adults. We assessed antibodies to conformational Spike in COVID-19-na ïve children and adults vaccinated by BNT162b2 and ChAdOx1, and naturally infected with SARS-CoV-2 Early Clade, Delta, and Omicron. Sera were analyzed against Spike including naturally occurring VOCs Alpha, Beta, Gamma, Delta, and Omicron B...
Source: Journal of Clinical Immunology - July 5, 2023 Category: Allergy & Immunology Source Type: research
MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development
Abstract
MECOM deficiency is a recently identified inborn error of immunity and inherited bone marrow failure syndrome caused by haploinsufficiency of the hematopoietic transcription factor MECOM. It is unique among inherited bone marrow failure syndromes, many of which present during later childhood or adolescence, because of the early age of onset and severity of the pancytopenia, emphasizing the importance and gene dose dependency ofMECOM during hematopoiesis. B-cell lymphopenia and hypogammaglobulinemia have been described in a subset of patients with MECOM deficiency. While the mechanisms underlying the B-cell defi...
Source: Journal of Clinical Immunology - July 5, 2023 Category: Allergy & Immunology Source Type: research
Late-Onset Lymphopenia and ITP in a Patient with Hyper IgM Syndrome Due to a Homozygous Variant in AICDA
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - July 4, 2023 Category: Allergy & Immunology Source Type: research
Neutrophil Activation and Immune Thrombosis Profiles Persist in Convalescent COVID-19
ConclusionThe lack of restoration of gene expression to a normal profile after up to 6 months of follow-up, even in asymptomatic patients who experienced severe COVID-19, signals the need to carefully extend their clinical follow-up and propose preventive measures. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
Impaired B Cell Recall Memory and Reduced Antibody Avidity but Robust T Cell Response in CVID Patients After COVID-19 Vaccination
ConclusionReduced avidity and significantly impaired recall memory formation after COVID-19 vaccination in seroresponding CVID patients stress the importance of a more differentiated analysis of humoral immune response in CVID patients. Our observations challenge the clinical implications that follow the binary categorization into seroresponder and non-seroresponder. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
Health-Related Quality of Life of Patients and Families with Primary Immunodeficiency in Malaysia: a Cross-Sectional Study
ConclusionParents and children with PID, especially those from middle socioeconomic status, have lower HRQOL and school function impairment than healthy children. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX
AbstractImmune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is a serious disorder, which may comprise diabetes, thyroid disease, enteropathy, cytopenias, eczema, and other multi-system autoimmune dysfunction features. IPEX syndrome is caused by mutations in the forkhead box P3 (FOXP3) gene. Here, we report the clinical manifestations of a patient with IPEX syndrome onset in the neonatal period. A de novo mutation at exon 11 of theFOXP3 gene (c.1190G > A, p.R397Q) was found, and its main clinical manifestations included hyperglycemia and hypothyroidism. Subsequently, we comprehensively r...
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
Non-osteopenic Bone Pathology After Allo-hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity
ConclusionNon-osteopenic bone pathology in long-term survivors of allo-HSCT for IEI is not rare. Most patients did not present with complaints until at least 5 years post-HSCT highlighting the need for ongoing bone health assessment for patients with IEI. Children presenting with stunted growth and bone pathology post-HSCT should undergo skeletal survey to rule out development of post-HSCT skeletal dysplasia. Increased rates and complexity of bone pathol ogy were seen amongst patients with Wiskott-Aldrich syndrome. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
Phenotypic Variability of SOCS1 Haploinsufficiency
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
A Three-Step Screening Procedure for Early Identification of Children at High Risk of Hemophagocytic Lymphohistiocytosis
ConclusionA significant proportion of pediatric HLH patients present at the hospital without having all three symptoms: fever, splenomegaly, and cytopenias. Our three-step screening procedure, utilizing commonly available clinical and laboratory parameters, can effectively identify pediatric patients who may be at high risk for HLH. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
