(Q73873085)

English

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

scientific article published on 01 June 2000

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

common variable immunodeficiency

1 reference

based on heuristic

inferred from title

author name string

H Kanegane

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

S Tsukada

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

T Iwata

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

T Futatani

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

K Nomura

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

J Yamamoto

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

T Yoshida

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

K Agematsu

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

A Komiyama

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

T Miyawaki

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

publication date

1 June 2000

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Clinical and Experimental Immunology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

120

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

512-517

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844531%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Carrier detection in typical and atypical X-linked agammaglobulinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary immunodeficiency syndromes in Italy: a report of the national register in children and adults

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and immunologic analysis of a family containing five patients with common-variable immune deficiency or selective IgA deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X chromosome inactivation analysis to distinguish sporadic cases of X-linked agammaglobulinaemia from common variable immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Common variable immunodeficiency: diagnosis and management

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of Bruton's tyrosine kinase in immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The primary immunodeficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunodeficiencies of genetic origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Discordant phenotype in siblings with X-linked agammaglobulinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Common variable immunodeficiency: clinical aspects and recent progress in identifying the immunological defect(s).

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the mu heavy-chain gene in patients with agammaglobulinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked agammaglobulinemia. A clinical and molecular analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Common variable immunodeficiency: how many diseases?

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrum of primary immunodeficiency disorders in Australia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): the use of protein analysis as a diagnostic indicator of XLA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[The oldest case with X-linked agammaglobulinemia in Japan lacking Bruton-type tyrosine kinase protein detected by flow cytometry]

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary immunodeficiency diseases in Latin America: first report from eight countries participating in the LAGID. Latin American Group for Primary Immunodeficiency Diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in btk in patients with presumed X-linked agammaglobulinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic basis of abnormal B cell development

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary antibody deficiency in Arabs: first report from eastern Saudi Arabia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical X-linked agammaglobulinemia diagnosed in three adults

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary immunodeficiency syndrome in Japan. I. Overview of a nationwide survey on primary immunodeficiency syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary immunodeficiency disorders in Sweden: Cases among children, 1974?1979

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children

1 reference

https://pubmed.ncbi.nlm.nih.gov/10844531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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