A new mutation that predicted a drastic alteration of the BTK protein function
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- 作者：Anne Debost-Legr ; Guillaume Legr ; Gaelle Moulillot ; Christine Francannet ; Bertr ; Bocly ; Ioannis Theodoroub ; Catherine Paillard
- 关键词：XLA ; X-Linked Agammaglobulinemia ; BTK ; Bruton Tyrosine Kinase ; PBMC ; Peripheral Blood Mononuclear Cell ; FITC-conjugated ; Fluorescein Isothiocyanate-conjugated ; APC ; Allophycocyanin ; PH ; Pleckstrin Homology ; TH ; Tec Homology ; SH2 ; Src Homology 2 ; SH3 ; Scr
- 刊名：Gene
- 出版年：2013
- 出版时间：15 September, 2013
- 年：2013
- 卷：527
- 期：1
- 页码：426-428
- 全文大小：236 K
文摘
X-linked agammaglobulinemia (XLA) or Bruton disease is a relatively rare constitutionally immune disorder due to a genetic mutation of BTK (Bruton tyrosine kinase) gene which encodes for BTK protein. BTK is a signal-transducing protein expressed in hematopoietic lineages. The genetic disorder is responsible for B cell lymphocytes' maturation arrest. The humoral immunodeficiency caused by BTK mutation is linked with recurrent bacterial and viral infections. Genetic investigations of the prepositus as well as the other members of the family are necessary to characterize a mutation in BTK gene to confirm the diagnosis and reveal a hereditary transmission or de novo mutation.
Authors propose and comment a case report of an 8 month old child who suffers from Bruton disease. Initial presentation was neutropenia, but genetic investigation has revealed a previously non-reported mutation in the BTK gene. The same mutation was found in the mother with low expression of BTK in monocytes and normal in B-cells suggesting a lineage specific extinction of BTK which has never been reported before.