Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults

Respiratory Research

Volumn 2, Issue 3, 2001, Pages 188-192

  Usui, Kazuhiro ^a   Sasahara, Yoji ^a   Tazawa, Ryushi ^a   Hagiwara, Koichi ^a   Tsukada, Satoshi ^b   Miyawaki, Toshio ^c   Tsuchiya, Shigeru ^a   Nukiwa, Toshihiro ^a  

^a TOHOKU UNIVERSITY   (Japan)

^b OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^c TOYAMA MEDICAL AND PHARMACEUTICAL UNIVERSITY   (Japan)

Author keywords

Adult onset; Bruton's tyrosine kinase; Mild hypogammaglobulinemia; Recurrent pneumonia; X linked agammaglobulinemia

Indexed keywords

ALANINE; COMPLEMENTARY DNA; CYTOPLASM PROTEIN; GLYCINE; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; PROTEIN ANTIBODY; PROTEIN TYROSINE KINASE; THREONINE;

ADULT; ANAMNESIS; ARTICLE; B LYMPHOBLAST; BACTERIAL INFECTION; BONE MARROW; CASE REPORT; CELL LINE; CHILDHOOD; CODON; CONTROLLED STUDY; CYTOPLASM; DISEASE SEVERITY; EPSTEIN BARR VIRUS; FLOW CYTOMETRY; GENE DELETION; GENE DISRUPTION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMORAL IMMUNE DEFICIENCY; HYPOGAMMAGLOBULINEMIA; IMMUNOGLOBULIN BLOOD LEVEL; MALE; MONOCYTE; MOTHER; PERIPHERAL LYMPHOCYTE; PNEUMONIA; PROTEIN DOMAIN; RECURRENT DISEASE; SEQUENCE ANALYSIS; STOP CODON; SYMPTOMATOLOGY; VIRUS CELL TRANSFORMATION; X LINKED AGAMMAGLOBULINEMIA;

ADULT; AGAMMAGLOBULINEMIA; ALLELES; BASE SEQUENCE; DNA, COMPLEMENTARY; FLOW CYTOMETRY; GENE DELETION; HUMANS; LINKAGE (GENETICS); MALE; MONOCYTES; MUTATION; PEDIGREE; PNEUMONIA; POLYMERASE CHAIN REACTION; PROTEIN-TYROSINE KINASES; RECURRENCE; X CHROMOSOME;

EID: 0035720005     PISSN: 14659921     EISSN: None     Source Type: Journal    
DOI: 10.1186/rr56     Document Type: Article

References (14)

1. Agammaglobulinemia
2. Molecular and cellular aspects of X-linked agammaglobulinemia
3. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
4. The gene involved in X-linked agammaglobulinemia is a member of the src family of protein-tyrosine kinases
5. Deficient expression of Bruton's tyrosine kinase is monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection
6. Atypical X-linked agammaglobulinemia (XLA) diagnosed in adult
7. A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia
8. Insights into lymphocyte development from X-linked immune deficiencies
9. BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
10. The oldest case with X-linked agammaglobulinemia in Japan lacking Bruton-type tyrosine kinase protein detected by flow cytometry
11. A novel mutation (Cys145→Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male
12. Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry
13. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase
14. Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: Localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia