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X-linked agammaglobulinemia diagnosed in adulthood: a case report.
- Source :
-
International journal of hematology [Int J Hematol] 2006 Aug; Vol. 84 (2), pp. 154-7. - Publication Year :
- 2006
-
Abstract
- X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency caused by mutations in Bruton's tyrosine kinase (BTK). Patients typically become symptomatic during infancy or early childhood and develop recurrent bacterial infections. We report a Japanese case of XLA diagnosed in a patient who was 27 years of age and who had no history of severe infection. The patient's serum immunoglobulin (Ig) G, IgA, and IgM levels were 132,7, and 17 mg/dL, respectively. The percentage of positive cells for CD19 and CD20 was 0.03% and 0.02%, respectively. The patient's brother and sister had no abnormalities. Flow cytometric analysis showed a partially reduced expression of BTK protein in the patient's peripheral monocytes. Sequencing of the BTK. gene revealed a missense mutation (230C>T,T33I). Given this data, this patient was diagnosed as having rare, late onset XLA with a missense mutation in the BTK gene.
- Subjects :
- Adult
Agammaglobulinaemia Tyrosine Kinase
Agammaglobulinemia blood
Agammaglobulinemia microbiology
Asian People
Bacterial Infections blood
Bacterial Infections genetics
Gene Expression Regulation, Enzymologic genetics
Genetic Diseases, X-Linked blood
Genetic Diseases, X-Linked microbiology
Humans
Immunoglobulins blood
Japan
Leukocyte Count
Male
Protein-Tyrosine Kinases biosynthesis
Agammaglobulinemia genetics
Genetic Diseases, X-Linked genetics
Mutation, Missense
Protein-Tyrosine Kinases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0925-5710
- Volume :
- 84
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- International journal of hematology
- Publication Type :
- Academic Journal
- Accession number :
- 16926138
- Full Text :
- https://doi.org/10.1532/IJH97.06095