ArticleAmerican journal of human genetics1996
Discordant phenotype in siblings with X-linked agammaglobulinemia.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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Who cites it
24 citing papers in PubMed.
- Atypical X-linked agammaglobulinemia diagnosed in adulthood with arthritis caused by a hypomorphic BTK splice-site variant: a case report and literature review.Frontiers in immunology · 2026Review
- A novelKorean journal of pediatrics · 2016Article
- Primary antibody deficiencies.Nature reviews. Immunology · 2013Review
- Three brothers of X-linked agammaglobulinemia: the relation between phenotype and neutropenia.International journal of hematology · 2009Article
- What does it take to call it a pathogenic mutation?Clinical immunology (Orlando, Fla.) · 2008Article
- A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.Clinical and experimental immunology · 2008Article
- Analysis of clinical presentations of Bruton disease: a review of 20 years of accumulated data from pediatric patients at Severance Hospital.Yonsei medical journal · 2008Article
- Severe neutropenia in Japanese patients with x-linked agammaglobulinemia.Journal of clinical immunology · 2005Article
- Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients.Journal of human genetics · 2003Article
- Role of the BCR complex in B cell development, activation, and leukemic transformation.Immunologic research · 2003Review
- XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.Journal of clinical immunology · 2002Article
- Unimpaired activation of c-Jun NH2-terminal kinase (JNK) 1 upon CD40 stimulation in B cells of patients with X-linked agammaglobulinemia.Journal of clinical immunology · 2002Article
- Phosphoinositide 3-kinase and Bruton's tyrosine kinase regulate overlapping sets of genes in B lymphocytes.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- The clinical spectrum of Bruton's agammaglobulinemia.Current allergy and asthma reports · 2001Review
- X-linked agammaglobulinemia.Clinical reviews in allergy & immunology · 2000Review
- A sensitized genetic system for the analysis of murine B lymphocyte signal transduction pathways dependent on Bruton's tyrosine kinase.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry.Clinical and experimental immunology · 2000Article
- Early B cell defects.Clinical and experimental immunology · 2000Review
- Immunodeficiency due to a unique protracted developmental delay in the B-cell lineage.Clinical and diagnostic laboratory immunology · 1999Article
- Independent and opposing roles for Btk and lyn in B and myeloid signaling pathways.The Journal of experimental medicine · 1998Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
X-linked agammaglobulinemia (XLA) is a congenital humoral immunodeficiency caused by a defect in a B-cell-specific signaling molecule, Btk. There has been little concordance of phenotype with genotype in this disorder, and defects in Btk cause immunodeficiencies that range from mild impairment to complete inability to produce antibodies. The factors modifying the phenotype of XLA are not understood. The current study is the first description of two male siblings with identical T134 --> C mutations in the translation initiation ATG of Btk who have different clinical phenotypes. The proband lacks immunoglobulins and B cells and has recurrent infections, while the elder, affected brother has normal levels of IgG and IgM and very few infections. Both have undetectable levels of Btk kinase activity in circulating mononuclear cells. Complete sequencing of Btk gene transcripts in both brothers revealed no additional mutations to account for the discordant phenotypes. This description provides unequivocal evidence that the phenotype of XLA is influenced by factors additional to the Btk gene.
Indexed as
Identifiers
8644706PMC1914566What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.