X-Linked Agammaglobulinemia (XLA) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Combined Treatment of Progressive Encephalitis in an X-linked Agammaglobulinemia Patient
We describe a patient with progressive encephalitis who improved after the use of immunomodulatory treatment with corticosteroids, fluoxetine, and nitazoxanide. In most of the cases the evolution of the progressive encephalitis is complicated and catastrophic. Based on our experience and the review of the literature, we propose the use of this combined treatment to control this devastating complication.PMID:38085151 | DOI:10.18502/ijaai.v22i5.13999 (Source: Iranian Journal of Allergy, Asthma and Immunology)
Source: Iranian Journal of Allergy, Asthma and Immunology - December 12, 2023 Category: Allergy & Immunology Authors: Marco Antonio Yamazaki-Nakashimada Patricia Herrera-Mora Alfonso Mahrx-Bracho Gabriela L ópez-Herrera Juan Carlos Bustamante-Ogando Selma Cecilia Scheffler-Mendoza Source Type: research

Inborn Errors of Immunity —the Sri Lankan Experience 2010–2022
ConclusionIEI in Sri Lanka are diagnosed mainly in childhood. The low diagnosis rates suggest a need for educating clinicians regarding IEI in adulthood. The high mortality rates associated with some IEI indicate the need of transplant services in the country. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 1, 2023 Category: Allergy & Immunology Source Type: research

Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report
ConclusionWe demonstrated reduced BTK protein expression confirming the pathogenicity of the variant and related our findings to genotype-phenotype relationship studies ina XLA caused by synonymous mutations. (Source: Immunity, Inflammation and Disease)
Source: Immunity, Inflammation and Disease - October 20, 2023 Category: Allergy & Immunology Authors: Cindy Srinivasan, Afshin Shameli, Bruce Ritchie, Adil Adatia Tags: SHORT REPORT Source Type: research

Cellular immune response to SARS-CoV-2 in patients with primary antibody deficiencies
ConclusionsOur results documented satisfactory in vitro cellular immune response in PAD patients after booster SARS-CoV-2 vaccination. Therefore, even patients with agammaglobulinemia should benefit from vaccination due to the apparent induction of cell-mediated immunity, which, together with IgRT, grants comprehensive protection against the pathogen. (Source: Frontiers in Immunology)
Source: Frontiers in Immunology - October 12, 2023 Category: Allergy & Immunology Source Type: research

Chronic Diarrhea with Villous Blunting of the Small Intestine Under Capsule Endoscopy in Common Variable Immunodeficiency and X-Linked Agammaglobulinemia: A Case Series
(Source: Journal of Asthma and Allergy)
Source: Journal of Asthma and Allergy - September 22, 2023 Category: Allergy & Immunology Tags: Journal of Asthma and Allergy Source Type: research

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia
ConclusionThis report provides the first overview of demographic, clinical, immunological and genetic data of XLA in Malaysia. The combination of flow cytometric assessment and BTK genetic analysis provides a definitive diagnosis for XLA patients, especially with atypical clinical presentation. In addition, it may also allow carrier detection and assist in genetic counselling and prenatal diagnosis. (Source: Frontiers in Immunology)
Source: Frontiers in Immunology - September 22, 2023 Category: Allergy & Immunology Source Type: research

Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - September 13, 2023 Category: Allergy & Immunology Source Type: research

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

Immune Responses 6 Months After mRNA-1273 COVID-19 Vaccination and the Effect of a Third Vaccination in Patients with Inborn Errors of Immunity
ConclusionA similar decline in IgG titers and T cell responses was observed in patients with IEI when compared to healthy controls 6 months after mRNA-1273 COVID-19 vaccination. The limited beneficial benefit of a third mRNA COVID-19 vaccine in previous non-responder CVID patients implicates that other protective strategies are needed for these vulnerable patients. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 26, 2023 Category: Allergy & Immunology Source Type: research

A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA
ConclusionsCurrent therapies for XLA patients reduce early mortality, but patients continue to experience complications that impact organ function. With improved life expectancy, more efforts will be required to improve post-diagnosis organ dysfunction and quality of life. Neurologic manifestations are an important co-morbidity associated with mortality and not yet clearly fully understood. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 23, 2023 Category: Allergy & Immunology Source Type: research

Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton ’s tyrosine kinase case-study
IntroductionInborn errors of immunity (IEI) are an expanding group of rare diseases whose field has been boosted by next-generation sequencing (NGS), revealing several new entities, accelerating routine diagnoses, expanding the number of atypical presentations and generating uncertainties regarding the pathogenic relevance of several novel variants.MethodsResearch laboratories that diagnose and provide support for IEI require accurate, reproducible and sustainable phenotypic, cellular and molecular functional assays to explore the pathogenic consequences of human leukocyte gene variants and contribute to their assessment. ...
Source: Frontiers in Immunology - April 24, 2023 Category: Allergy & Immunology Source Type: research