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.

Clinical Utility of Flow-Cytometry for Diagnosis and Genotype Phenotype Correlation in a Cohort of X-linked Agammaglobulinemia Patients
(Source: Indian Journal of Pediatrics)
Source: Indian Journal of Pediatrics - April 16, 2024 Category: Pediatrics Source Type: research

A deep intronic BTK variant underlies X-linked agammaglobulinemia
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 5, 2024 Category: Allergy & Immunology Source Type: research

Hematopoietic stem cell gene editing rescues B-cell development in X-linked agammaglobulinemia
Antibody deficiencies are the most prevalent cause of inborn errors of immunity accounting for>50% of cases. Among these, X-linked agammaglobulinemia (XLA) represents one of the most severe forms, affecting around 1:100,000 newborn males.1 XLA arises from mutations in the gene encoding BTK, a nonreceptor tyrosine kinase, belonging to the Tec family, that promotes the maturation of B cells in the bone marrow and their activation in the periphery.2,3 At the pro –B-cell stage, the expression of BLNK, Igα, Igβ, and the RAG1- and RAG2-mediated production of Igμ lead to cell surface expression of the pre–B-cell receptor. ...
Source: Journal of Allergy and Clinical Immunology - March 11, 2024 Category: Allergy & Immunology Authors: Sameer Bahal, Marta Zinicola, Shefta E Moula, Thomas E. Whittaker, Andrea Schejtman, Asma Naseem, Elena Blanco, Winston Vetharoy, Yi-Ting Hu, Rajeev Rai, Eduardo Gomez-Castaneda, Catarina Cunha-Santos, Siobhan O. Burns, Emma C. Morris, Claire Booth, Giand Source Type: research

Hematopoietic stem cell gene editing rescues B cell development in X-linked agammaglobulinemia
(Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - March 11, 2024 Category: Allergy & Immunology Authors: Sameer Bahal, Marta Zinicola, Shefta E. Moula, Thomas E. Whittaker, Andrea Schejtman, Asma Naseem, Elena Blanco, Winston Vetharoy, Yi-Ting Hu, Rajeev Rai, Eduardo Gomez-Castaneda, Catarina Cunha Santos, Siobhan O. Burns, Emma C. Morris, Claire Booth, Gian Source Type: research

Genes, Vol. 15, Pages 314: Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years
We describe our experience of optional NBS for severe PID and SMA in Osaka, Japan. A multiplex TaqMan qPCR assay was used for the optional NBS program. The assay was able to quantify the levels of T-cell receptor excision circles and kappa-deleting recombination excision circles, which is useful for severe combined immunodeficiency and B-cell deficiency screening, and can simultaneously detect the homozygous deletion of SMN1 exon 7, which is useful for NBS for SMA. In total, 105,419 newborns were eligible for the optional NBS program between 1 August 2020 and 31 August 2023. A case each of X-linked agammaglobulinemia and S...
Source: Genes - February 28, 2024 Category: Genetics & Stem Cells Authors: Tomokazu Kimizu Masatoshi Nozaki Yousuke Okada Akihisa Sawada Misaki Morisaki Hiroshi Fujita Akemi Irie Keiko Matsuda Yuiko Hasegawa Eriko Nishi Nobuhiko Okamoto Masanobu Kawai Kohsuke Imai Yasuhiro Suzuki Kazuko Wada Nobuaki Mitsuda Shinobu Ida Tags: Article Source Type: research

Non-Helicobacter pylori Helicobacter Species as a Cause of Refractory Chronic Cellulitis in X-Linked Agammaglobulinemia
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 16, 2024 Category: Allergy & Immunology Source Type: research

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