Title:

The analysis of the CD16a coding gene with respect to the B73.1/Leu11c epitope loss in patinets with selected primary immunodeficiency diseases

Author:

Lenart, Marzena

Subject:

CD16 receptor ; primary immunodeficiency diseases ; herpesviral infection ; B73.1/Leu11c epitope

Abstract:

The loss of the B73.1/Leu11c epitope of CD16a (FcγRIIIa) receptor, detected by a monoclonal antibody commonly used in routine immunophenotyping of NK cells and CD14+CD16++ monocytes subpopulation, has been previously observed in several children suffering from severe recurrent infections with Herpesviridae and was associated with L48R/H polymorphism. Presented studies revealed statistically significant correlation between the B73.1/Leu11c epitope loss and primary immunodeficiencies, while it was not detected in patients with gastrointestinal malignancies or healthy controls. Also, no linkage between the defect and herpesviral infections was observed. Patients with the epitope loss did not suffer from any herpesviral infections, apart from one child with mild herpes simplex virus infection, while none of the children suffering from severe herpesviral infections had the epitope loss detected. Thus, the B73.1/Leu11c epitope loss seems not to be an isolated NK cells deficiency and its analysis is of limited use in predicting severity of clinical course of herpesviral infections. The genetic analysis of FcγRIIIa gene suggests that the epitope loss is not connected with L48R/H polymorphism, as all of analyzed individuals had FcγRIIIa-L/L coding genotype. This indicate that the change of amino acid 48 is rather a naturally occurring polymorphism that a disease-causing mutation.

Place of publishing:

Kraków

Level of degree:

2 - studia doktoranckie

Degree discipline:

immunologia

Degree grantor:

Wydział Lekarski

Promoter:

Siedlar, Maciej

Date:

2012

Date issued:

2011

Type:

Praca doktorska

Call number:

ZB-116994

Language:

pol

Access rights:

nieograniczony