Assessment of male CVID patients for mutations in the Btk gene: How many have been misdiagnosed?

Clinical and Experimental Immunology

Volumn 124, Issue 3, 2001, Pages 465-469

  Weston, S A ^a   Prasad, M L ^a   Mullighan, C G ^b   Chapel, H ^c   Benson, E M ^a  

^a WESTMEAD HOSPITAL   (Australia)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Bruton's tyrosine kinase gene; Common variable immunodeficiency; Mutation

Indexed keywords

PROTEIN TYROSINE KINASE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; COMMON VARIABLE IMMUNODEFICIENCY; DIAGNOSTIC ERROR; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; HYPOGAMMAGLOBULINEMIA; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGAMMAGLOBULINEMIA; AGED; COHORT STUDIES; COMMON VARIABLE IMMUNODEFICIENCY; DIAGNOSIS, DIFFERENTIAL; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-TYROSINE KINASES;

EID: 0034925597     PISSN: 00099104     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2249.2001.01556.x     Document Type: Article

References (20)

1. Primary immunodeficiency diseases. Report of a WHO Scientific Group
2. Clinical and immunologic analyses of 103 patients with common variable immunodeficiency
3. Common variable immunodeficiency: Clinical and immunological features of 248 patients
4. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulihernia
5. The gene involved in X-linked agammaglobulinemia is a member of the src family of protein tyrosine kinases
6. Molecular diagnosis of X-linked agammaglobulinemia
7. Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis
8. Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: Identification of a mutation which affects the same codon as is altered in immunodeficient xid mice
9. Immunologic and genetic studies in common variable immunodeficiency
10. Genetic basis of abnormal B cell development
11. Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry
12. Immunodeficiency mutation databases - A new research tool
13. PCR-SSCP. A method for detection of mutations
14. How sensitive is PCR-SSCP?
15. Non-isotopic single-strand conformation polymorphism (SSCP) analysis of PCR products
16. Diagnostic criteria for primary immunodeficiencies
17. A simple salting out procedure for extracting DNA from human nucleated cells
18. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase
19. DNA based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia
20. BTKbase, mutation database for X-linked agammaglobulinemia (XLA)