X-linked Agammaglobulinemia
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Last Posted: Aug 16, 2024
- Dysregulation of TLR Signaling-Associated Gene Expression in X-linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression.
Marcelo Teocchi, et al. Journal of innate immunity 2024 0 - Clinical Utility of Flow-Cytometry for Diagnosis and Genotype Phenotype Correlation in a Cohort of X-linked Agammaglobulinemia Patients.
Reetika Malik Yadav, et al. Indian journal of pediatrics 2024 0 - [Genetic study of an X-linked agammaglobulinemia pedigree caused by an BTK mutation].
Wei Chenxi, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 0 (11) 1081-1086 - A novel BTK gene mutation, c.82delC (p.Arg28 Alafs5), in a Korean family with X-linked agammaglobulinemia.
Lee Jeongeun, et al. Korean journal of pediatrics 2016 0 (Suppl 1) S49-S52 - Genetic analysis of patients with defects in early B-cell development.
Conley Mary Ellen, et al. Immunological reviews 2005 0 216-34 - Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.
Boyarchuk Oksana et al. Frontiers in immunology 2022 13999664 - Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan Koon-Wing et al. Frontiers in immunology 2022 13883446 - X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry.
O'Toole Dana et al. Journal of clinical immunology 2022 - Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.
Suspitsin Evgeny N et al. Clinical genetics 2020 May - Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
Woon See-Tarn et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2016 1265 - Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.
Borte Stephan, et al. Blood 2012 3 (11) 2552-5 - X-linked agammaglobulinemia
From NCATS Genetic and Rare Diseases Information Center - Genotype-phenotype correlation in Bruton's tyrosine kinase deficiency.
Teimourian Shahram, et al. Journal of pediatric hematology/oncology 2008 9 (9) 679-83 - A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.
López-Granados Eduardo, et al. The Journal of allergy and clinical immunology 2005 9 (3) 690-7
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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