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.

Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia
CONCLUSION: This study makes definitive diagnosis for 6 families with suspected XLA and further expands the spectrum of BTK mutations, providing new information for the diagnosis of the disease.PMID:35245483 | DOI:10.1016/j.cca.2022.02.019 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - March 4, 2022 Category: Chemistry Authors: Qimin Zhou Yanling Teng Jianyan Pan Qingxin Shi Yingdi Liu Desheng Liang Zhuo Li Lingqian Wu Source Type: research

The inhibitory coreceptor CD22 restores B cell signaling by developmentally regulating < em > Cd45 < sup > -/- < /sup > < /em > immunodeficient B cells
Sci Signal. 2022 Mar;15(723):eabf9570. doi: 10.1126/scisignal.abf9570. Epub 2022 Mar 1.ABSTRACTThe protein tyrosine phosphatase CD45 plays a crucial role in B cell antigen receptor (BCR) signaling by activating Src family kinases. Cd45-/- mice show altered B cell development and a phenotype likely due to reduced steady-state signaling; however, Cd45-/- B cells show relatively normal BCR ligation-induced signaling. In our investigation of how BCR signaling was restored in Cd45-/- cells, we found that the coreceptor CD22 switched from an inhibitory to a stimulatory function in these cells. We disrupted the ability of CD22 to...
Source: Science Signaling - March 1, 2022 Category: Biomedical Science Authors: Chizuru Akatsu Amin Alborzian Deh Sheikh Naoko Matsubara Hiromu Takematsu Astrid Schweizer Hajjaj H M Abdu-Allah Thomas F Tedder Lars Nitschke Hideharu Ishida Takeshi Tsubata Source Type: research

Retrospective study of 98 patients with X-linked agammaglobulinemia complicated with arthritis
ConclusionHigh prevalence of arthritis among X-linked agammaglobulinemia patients and subsequent progression through IVIG replacement therapy highlight the importance of timely diagnosis and better management of these patients. Our finding indicated a potential correlation between genotype and phenotype, and further research on the mechanism of arthritis in XLA patients could increase physicians ’ awareness and improve patients’ prognosis.Key Points•This study described the feature of arthritis in XLA patients and indicated a potential correlation between this complication and genotype. (Source: Clinical Rheumatology)
Source: Clinical Rheumatology - February 16, 2022 Category: Rheumatology Source Type: research

Infections With Enterohepatic Non-H. pylori Helicobacter Species in X-Linked Agammaglobulinemia: Clinical Cases and Review of the Literature
We report two clinical cases of XLA patients infected with H. bilis. These infections were chronic in these patients and could not be eradicated in one of them. We also review the cases of enterohepatic non-Helicobacter pylori species (NHPH) in patients with this inborn error of immunity. (Source: Frontiers in cellular and infection microbiology)
Source: Frontiers in cellular and infection microbiology - February 4, 2022 Category: Microbiology Source Type: research

Outcomes Among Racial and Ethnic Minority Groups with X-linked Agammaglobulinemia from the USIDNET Registry
We describe respiratory infections, age of diagnosis and treatment initiation among racial and ethnic minorities with X-linked agammaglobulinemia (XLA) from the U.S. Immunodeficiency Network (USIDNET) Registry. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - February 1, 2022 Category: Allergy & Immunology Authors: Dana O'Toole, Daniel Groth, Hannah Wright, Francisco Bonilla, Charlotte Cunningham-Rundles, Kathleen Sullivan, Hans Ochs, Rebecca Marsh, Elizabeth Feuille, Ramsay Fuleihan Source Type: research

Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India
Hum Immunol. 2022 Jan 21:S0198-8859(22)00005-2. doi: 10.1016/j.humimm.2022.01.003. Online ahead of print.ABSTRACTX-linked agammaglobulinemia (XLA) is an X-linked recessive primary immunodeficiency disorder caused due to a pathogenic variant in the Bruton tyrosine (BTK) gene with an incidence of 1:379,000 live births and 1:190,000 male births. Patients affected with XLA present with recurrent infections of the gastrointestinal and respiratory tracts. Here we report the first case series of 17 XLA patients of 10 South Indian families with a wide spectrum of clinical and genetic features. In our cohort, patients presented mai...
Source: Human Immunology - January 25, 2022 Category: Allergy & Immunology Authors: Geeta Madathil Govindaraj Abhinav Jain Athulya Edavazhippurath Rahul C Bhoyar Dhananjayan Dhanasooraj Anushree Mishra Vishu Gupta Mohandas Nair P M Shiny Ramya Uppuluri Anoop Kumar Atul Kashyap V T Ajith Kumar Gireesh Shankaran Vigneshwar Senthivel Mohame Source Type: research

B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia
This report sheds further light on atypical cases of XLA. (Source: Immunologic Research)
Source: Immunologic Research - January 10, 2022 Category: Allergy & Immunology Source Type: research

Pulmonary Radiological Manifestations of Humoral and Combined Immunodeficiencies in a Tertiary Pediatric Center
This study aimed to reveal the radiologic patterns of thoracic involvement in these disorders. A total of 58 patients, including 38 cases with combined cellular-humoral and 20 cases with humoral immunodeficiencies, were enrolled in this study. The "combined" group consisted of 12 cases with severe combined immunodeficiency (SCID) and 26 cases with combined immunodeficiency. The "humoral" group included seven patients with Hyper IgM syndrome (HIGMs), seven cases with common variable immunodeficiency (CVID), three patients with X-linked agammaglobulinemia, and three patients with other types of humoral primary immunodeficien...
Source: Iranian Journal of Allergy, Asthma and Immunology - December 18, 2021 Category: Allergy & Immunology Authors: Mitra Khalili Hossein Farzi Sepideh Darougar Fatemeh Hajijoo Mehrnaz Mesdaghi Mahboubeh Mansouri Delara Babaie Amir Hashemitari Narges Eslami Zahra Chavoshzadeh Source Type: research