Article
Immunology
Allon Raphael, Oded Shamriz, Ariella Tvito, Sophie Magen, Shmuel Goldberg, Orli Megged, Atar Lev, Amos J. Simon, Yuval Tal, Raz Somech, Rachel Eisenberg, Ori Toker
Summary: This study aimed to investigate the presence of SARS-CoV-2 antibodies in IVIG preparations harvested globally and evaluate the transfer of these antibodies to XLA patients. The results showed that SARS-CoV-2 antibodies were present in some IVIG preparations harvested during the COVID-19 pandemic and were subsequently transmitted to XLA patients at a reduced level.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Immunology
Chai Teng Chear, Intan Hakimah Ismail, Kwai Cheng Chan, Lokman Mohd Noh, Asiah Kassim, Amir Hamzah Abdul Latiff, Sandeep Singh Gill, Nazatul Haslina Ramly, Kah Kee Tan, Charlotte Sundaraj, Chong Ming Choo, Sharifah Adlena Syed Mohamed, Mohd Farid Baharin, Amelia Suhana Zamri, Sharifah Nurul Husna Syed Yahya, Saharuddin Bin Mohamad, Adiratna Mat Ripen
Summary: This article provides an overview of demographic, clinical, immunological, and genetic data of XLA patients in Malaysia, which serves as a basis for the diagnosis and genetic counseling of XLA.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Allergy
Melissa Cardenas-Morales, Vivian P. Hernandez-Trujillo
Summary: Disruptions in the B cell development pathway can result in primary B cell immunodeficiency, with XLA being the most common cause. Early recognition and diagnosis are crucial for improved outcomes and prevention of complications. Different genetic forms of agammaglobulinemia have varying clinical presentations and diagnostic challenges.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
(2022)
Article
Immunology
Katherine Altman, Chuan Zhou, Vivian Hernandez-Trujillo, Christopher Scalchunes, David J. Rawlings, M. Teresa de la Morena
Summary: This study aims to understand the self-perceived health status of US-based patients with XLA and examine the associations among clinical characteristics, treatment experience, and quality of life (QoL). Results showed that various factors, including chronic conditions and hospitalization, can impact the health status of patients.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Review
Allergy
Sanchi Chawla, Ankur Kumar Jindal, Kanika Arora, Rahul Tyagi, Manpreet Dhaliwal, Amit Rawat
Summary: X-linked agammaglobulinaemia (XLA) is a primary immunodeficiency disorder that affects B cell development and has implications for T cell functioning. Patients with XLA exhibit abnormalities in T cell compartment, including impaired memory T cells, follicular helper T cells, T regulatory cells, and T helper 17 cells. These abnormalities may lead to increased risk of viral infections, autoimmunity, and chronic lung disease.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
(2023)
Article
Medical Laboratory Technology
Qimin Zhou, Yanling Teng, Jianyan Pan, Qingxin Shi, Yingdi Liu, Fangfang Zhang, Desheng Liang, Zhuo Li, Lingqian Wu
Summary: This study provides definitive diagnosis for 6 families with suspected XLA, expands the spectrum of BTK mutations, and provides new information for the diagnosis of the disease.
CLINICA CHIMICA ACTA
(2022)
Review
Allergy
Mark J. Ponsford, Benjamin M. J. Shillitoe, Ian R. Humphreys, Andrew R. Gennery, Stephen Jolles
Summary: The purpose of this review is to understand the clinical outcomes of COVID-19 in monogenic causes of predominant antibody deficiency, with a focus on the antiviral contribution of humoral immunity. Key pathways related to severe COVID-19, such as BTK and hyperinflammation, are emerging, while convalescent plasma therapy has been associated with viral escape variants. XLA individuals can mount a viral-specific T-cell response, but the clinical significance is still evolving.
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Immunology
Gabriela Ivankovich-Escoto, Sylvia Danielian, Estela Morera, Elexandra Barboza, Ivannia Atmella, Sandra Silva, Carlos Santamaria, Oscar Porras
Summary: This study characterizes the clinical, immunological, and genetic defects in XLA patients in Costa Rica. The study identifies a delay between symptom onset and diagnosis in XLA patients, highlighting the importance of early detection for preventing complications. Additionally, new likely pathogenic/pathogenic variants in the BTK gene were found in this population, providing valuable information for future genetic diagnosis.
SCANDINAVIAN JOURNAL OF IMMUNOLOGY
(2023)
Article
Immunology
Pavel Shelyakin, Ksenia R. Lupyr, Evgeny S. Egorov, Ilya A. Kofiadi, Dmitriy B. Staroverov, Sofya A. Kasatskaya, Valeriia V. Kriukova, Irina A. Shagina, Ekaterina M. Merzlyak, Tatiana O. Nakonechnaya, Elena A. Latysheva, Irina A. Manto, Musa R. Khaitov, Sergey A. Lukyanov, Dmitriy M. Chudakov, Olga Britanova
Summary: The interplay between T- and B-cell compartments during naive, effector and memory T cell maturation is critical for a balanced immune response. Primary B-cell immunodeficiency arising from X-linked agammaglobulinemia (XLA) offers a model to explore B cell impact on T cell subsets, starting from the thymic selection. The findings suggest active B cell involvement in CD4 T cell subsets maturation, including B cell-dependent expansion of the naive Treg TCR repertoire that enables better control of self-reactive T cells.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Yujuan Hou, Hans Peter Gratz, Guillermo Urena-Bailen, Paul G. Gratz, Karin Schilbach-Stueckle, Tina Renno, Derya Guengoer, Daniel A. Mader, Elke Malenke, Justin S. Antony, Rupert Handgretinger, Markus Mezger
Summary: This study reports three brothers with low-normal lymphocyte counts and susceptibility to respiratory infections and cutaneous warts. Genetic analysis revealed a novel mutation in the IL2RG gene. Functional characterization showed impaired T-cell function and somatic reversion in certain cell populations. The atypical SCID phenotype in these brothers is due to a combination of hypomorphic IL2RG function and somatic reversion.
Article
Immunology
Alexander P. de Porto, Zhe Liu, Regina de Beer, Sandrine Florquin, Joris J. T. H. Roelofs, Onno J. de Boer, Joke M. M. den Haan, Rudi W. Hendriks, Cornelis van 't Veer, Tom van der Poll, Alex F. de Vos
Summary: The research indicates that besides regulating B cell-mediated immunity, Btk is critical for the regulation of myeloid cell-mediated, and particularly neutrophil-mediated, innate host defense against S. pneumoniae in vivo.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Allergy
Fahad Khan, Hannibal Person, Fumiko Dekio, Makoto Ogawa, Hsi-en Ho, David Dunkin, Elizabeth Secord, Charlotte Cunningham-Rundles, Stephen C. Ward
Summary: X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease that can manifest with gastrointestinal symptoms, including Crohn disease (CD)-like enteritis. Although clinically similar to CD, XLA-associated enteritis presents with unique histological features and requires a multidisciplinary evaluation for proper diagnosis and management.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Article
Toxicology
Tugce Boran, Aysenur Gunaydin Akyildiz, Ayse Tarbin Jannuzzi, Buket Alpertunga
Summary: Regorafenib (RGF) has shown great success in treating colorectal cancer, gastrointestinal stromal tumors, and hepatocellular carcinoma, but it can also induce life-threatening cardiotoxicity such as hypertension and cardiac ischemia/infarction. The molecular mechanism of these adverse effects is not clear, but it may be associated with mitochondrial damage in cardiac cells.
TOXICOLOGY LETTERS
(2021)
Article
Allergy
Zoha Shaka, Helia Mojtabavi, Elham Rayzan, Samaneh Zoghi, Sepideh Shahkarami, Jimenez Heredia Raul, Iraj Sedighi, Kaan Boztug, Nima Rezaei
Summary: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by rare mutations in the BTK gene. Mutations in the BTK gene lead to a reduced number of B-cells, resulting in increased susceptibility to infections. A 17-year-old XLA patient was found to have a hemizygous missense mutation in the BTK gene through genetic analysis.
ALLERGOLOGIA ET IMMUNOPATHOLOGIA
(2021)
Article
Pharmacology & Pharmacy
Gang Xie, Wenjie Liu, Zhen Lian, Dantao Xie, Guixin Yuan, Jiajie Ye, Zihong Lin, Weidong Wang, Jican Zeng, Huaxing Shen, Xinjia Wang, Haotian Feng, Wei Cong, Guanfeng Yao
Summary: The study demonstrated the inhibitory effects of the SYK inhibitor PRT on osteoclast and breast cancer functionalities in vitro and in vivo. PRT showed inhibition on osteoclastogenesis, bone resorption, and breast cancer cell growth, migration, and invasion, as well as prevention of bone loss post-OVX and cancer-induced bone destruction.
BIOCHEMICAL PHARMACOLOGY
(2021)
