Maternal germinal mosaicism of X‐linked agammaglobulinemia
✍ Scribed by Sakamoto, Mariko ;Kanegane, Hirokazu ;Fujii, Hideki ;Tsukada, Satoshi ;Miyawaki, Toshio ;Shinomiya, Noriaki
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 114 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0148-7299
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We report on an X-linked agammaglobulinemia (XLA) family in which mothers of two affected cousins were monozygotic twins. We analyzed the Btk gene of several members in three generations of the family by SSCP analysis, DNA sequencing, and RFLP analysis following polymerase chain reaction-amplificati
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency of the B-cell compartment caused by a defective gene encoding for the tyrosine kinase (btk) essential for B cell differentiation. Affected males undergo recurrent pyogenic infections and deficient immunoglobulin production. Peripheral b
## X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase ) of BTK mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to
X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease with a block in differentiation from pre-B to B cells resulting in a selective defect in the humoral immune response. Affected males have very low concentrations of serum immunoglobulins leading predominantly to recurrent bac