About: Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry

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About: Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry Goto Sponge NotDistinct Permalink

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scientific article published on 01 June 2000

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 2000 (uk) im Juni 2000 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunu de 2000 (ast) scientific article published on 01 June 2000 (en)
publication date	wds:Q73873085-5456F676-C4E0-444B-93D1-632CEB73A28A
publication date	2000-06-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q73873085-0808CC44-E5FC-476A-A73C-BEA479BDFAC2 wds:Q73873085-0BF7BA10-B79E-4EA5-9900-0CD5717044D5 wds:Q73873085-0D15094F-4FAD-4A34-9005-9A8ED2F3F404 wds:Q73873085-26025427-1F53-43CA-9DD8-C9D4EEFAD37D wds:Q73873085-2696A793-2A7B-48C6-95FB-516CD33D5A3B wds:Q73873085-30CE57A8-AB93-46A7-ACB7-B3B25B9D7C64 wds:Q73873085-347FE1FD-DDEA-4F82-B2AD-78B81569A8E6 wds:Q73873085-3D6D70B2-E233-4CEB-8965-50041E7784DD wds:Q73873085-41BCB6A6-8794-44CC-A849-B16A563B6B8B wds:Q73873085-41F82450-34E7-409F-B0F8-9412CA857A8D wds:Q73873085-49CA6EF2-8B6D-4F3C-9C12-B3E87DA655F5 wds:Q73873085-4D58898B-4BD6-4344-8293-D36513511C55 wds:Q73873085-5C11C1F3-D664-4B8D-9725-DD6EFA163DA0 wds:Q73873085-65117B98-84F5-4029-AE94-213683FEF1F6 wds:Q73873085-7AD30D60-C69B-404D-81EF-47AF544258B6 wds:Q73873085-8184BA51-E603-4766-B666-4DFC32D538E2 wds:Q73873085-8D6DA1AC-BBA0-48FF-B958-5519653CDA77 wds:Q73873085-8F909367-B24E-4C25-93A6-202ACBD0ABCB wds:Q73873085-91D81CCB-0BFE-4CC2-9159-5BFDB9C4955A wds:Q73873085-992B320C-3ED4-40A9-8D5E-CF262A1C256B wds:Q73873085-9DA3EE94-847C-42AB-8817-F039CACC99E7 wds:Q73873085-9E43186A-06FD-46DA-AEEC-CCA9A3AC84CC wds:Q73873085-9E542C34-1FD4-444D-8FAA-46CCC07A9398 wds:Q73873085-A208B70E-D0B6-4CCA-B7A4-F5C0E83D51AB wds:Q73873085-A26F90EC-AF9A-48FB-B5DE-1A6C782CA536 wds:Q73873085-A9842662-6DFE-4A21-A047-48F47F8964F5 wds:Q73873085-B9E9923B-5354-4FFA-A3E6-C7350DB15CA0 wds:Q73873085-C8199DF3-7F9F-4498-A6C6-275D4C9CB8DE wds:Q73873085-CC4EEA42-7955-4F40-ACCD-914EA42A0B2C wds:Q73873085-CE174136-4C11-4AE2-8B9D-EEE2BFDA225F wds:Q73873085-E31660D2-3E87-4BAA-9CD1-1A49D229DE24 wds:Q73873085-EBD83641-8E4D-4F53-8A36-294980758A7C wds:Q73873085-F2355544-DED6-48AB-A423-7A51AD94EB33 wds:Q73873085-F748D10E-8BED-44D9-9DC4-C93EA702C647 wds:Q73873085-FA91A76C-A155-4DFA-A00C-85884688A6F4
cites work	The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases Role of Bruton's tyrosine kinase in immunodeficiency Common variable immunodeficiency: how many diseases? Common variable immunodeficiency: diagnosis and management Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia Primary immunodeficiency syndromes in Italy: a report of the national register in children and adults Primary immunodeficiency disorders in Sweden: Cases among children, 1974?1979 Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children Primary immunodeficiency syndrome in Japan. I. Overview of a nationwide survey on primary immunodeficiency syndrome Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults The spectrum of primary immunodeficiency disorders in Australia Primary immunodeficiency diseases in Latin America: first report from eight countries participating in the LAGID. Latin American Group for Primary Immunodeficiency Diseases X-linked agammaglobulinemia. A clinical and molecular analysis Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): the use of protein analysis as a diagnostic indicator of XLA. The primary immunodeficiencies Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia Mutations in btk in patients with presumed X-linked agammaglobulinemia Common variable immunodeficiency: clinical aspects and recent progress in identifying the immunological defect(s). Mutations in the mu heavy-chain gene in patients with agammaglobulinemia Atypical X-linked agammaglobulinemia diagnosed in three adults Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male. Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Carrier detection in typical and atypical X-linked agammaglobulinemia BTKbase, mutation database for X-linked agammaglobulinemia (XLA) Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency Discordant phenotype in siblings with X-linked agammaglobulinemia Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. Genetic basis of abnormal B cell development Genetic and immunologic analysis of a family containing five patients with common-variable immune deficiency or selective IgA deficiency Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan Primary antibody deficiency in Arabs: first report from eastern Saudi Arabia Immunodeficiencies of genetic origin X chromosome inactivation analysis to distinguish sporadic cases of X-linked agammaglobulinaemia from common variable immunodeficiency [The oldest case with X-linked agammaglobulinemia in Japan lacking Bruton-type tyrosine kinase protein detected by flow cytometry]
author name string	wds:Q73873085-0A2380C3-893A-4B02-B269-E8170137404B wds:Q73873085-19E2B97D-4FD3-459F-B84D-5765ED35FD28 wds:Q73873085-23C94436-18FC-4472-93D3-B1EBA7F4B17D wds:Q73873085-26D2D87E-EEB7-45FD-8C17-1082873D7D9A wds:Q73873085-43FC8DF1-D506-4B40-AE5A-BAD0A4B5CBCF wds:Q73873085-46BE1144-50B6-44CB-9406-1476D9F439E4 wds:Q73873085-4B93D4F8-7A74-4356-AD80-1EFB2B8E08E9 wds:Q73873085-70A37E43-00AD-44BA-AF62-ED031F67B234 wds:Q73873085-C9C24083-3C9F-48F8-9EEC-78CDA56AA67A wds:Q73873085-DA6392AD-0CE4-45E5-A061-E6356AE59211
author name string	T Yoshida T Iwata K Nomura J Yamamoto A Komiyama H Kanegane K Agematsu T Miyawaki S Tsukada T Futatani
rdfs:label	Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry (en) Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (nl)

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