Autosomally inherited agammaglobulinemia
| Autosomally inherited agammaglobulinemia | |
| Clinical picture | repeated bacterial infections of the respiratory system, susceptibility to viral infections, congenital immunodeficiency |
|---|---|
| Cause | x-chromosome mutation |
| Diagnostics | examination of differential blood count, DNA diagnosis |
| Classification and references | |
In addition to the most common (X-linked) Bruton's agammaglobulinemia , there are also rare, autosomally inherited variants of agammaglobulinemia (non-Bruton's agammaglobulinemia[1]), which can also affect girls to a greater extent. However, they manifest phenotypically as classic X-linked agammaglobulinemia.
Autosomal recessive inherited forms can be caused by a mutation in the gene for the μ IgM heavy chain (IGHM, location 14q32.33), in the gene for the κ5 light chain (IGLL1, location 22q11.21) or in the gene for the adapted protein BLNK (location 10q23.2), whose activity is associated with BTK kinase.
An autosomal dominant inherited form was also described , caused by disruption of the LRRC8 gene (Leucine-rich repeat-containing protein 8; localization 9q34.13) by balanced translocation of the 9th and 20th chromosomes.
Links[edit | edit source]
[edit | edit source]
Source[edit | edit source]
- ŠÍPEK, Antonín. Geneticky podmíněné poruchy imunitního systému [online]. [cit. 24. 1. 2009]. <http://www.genetika-biologie.cz/primarni-imunodeficience>.
References[edit | edit source]
- BARTŮŇKOVÁ, Jiřina. Imunodeficience. 1. edition. Grada, 2002. 228 pp. ISBN 80-247-0244-4.
