Send to

Choose Destination
See comment in PubMed Commons below
J Korean Med Sci. 2011 Jul;26(7):966-70. doi: 10.3346/jkms.2011.26.7.966. Epub 2011 Jun 20.

A case of Fabry's disease with congenital agammaglobulinemia.

Author information

  • 1Department of Dermatology, Dong-A University College of Medicine, Busan, Korea.


Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunctions caused by the deposition of Gb3. On the other hand, congenital agammaglobulinemia is usually caused by mutations in Bruton's tyrosine kinase (Btk) gene with X-linked dominence, suppresses B cell maturation, and causes recurrent pyogenic infections. In former reports, the distance between the loci in the Xq22 region of the human X chromosome was found to be about 69 kilobases. A 23-yr-old man diagnosed with congenital agammaglobulinemia at age 5, showed typical clinical and laboratory and histopathological findings of Fabry's disease. The genetic basis of this combination of the two syndromes was studied in this patient. Here, we report a case of Fabry's disease with congenital agammaglobulinemia.


Agammaglobulinemia; Btk Gene; Fabry Disease; α-galactosidase A Gene

[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Korean Academy of Medical Sciences Icon for PubMed Central
    Loading ...
    Support Center