Naslov
Case study report: Severe B cell immunodeficiency and expansion of CD3+HLA-DR+ T cells in a patient with classical ataxia- telangiectasia

Autori
Lokas Bulat, Sandra ; Živković, Jelena ; Banić, Ivana ; Navratil, Marta ; Kobal Mrkić, Iva ; Polančec, Denis ; Turkalj, Mirjana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
30th Congress of the International Society for Advancement of Cytomery : abstracts / - , 2015, Xx-xx

Skup
Congress of the International Society for Advancement of Cytomery (30 ; 2015)

Mjesto i datum
Glasgow, Ujedinjeno Kraljevstvo, 26.06.2015. - 30.06.2015

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Ataxia-telangiectasia ; ; B cell ; flow cytometry

Sažetak
Ataxia-telangiectasia (A-T) is an autosomal recessive disease that consists of progressive cerebellar ataxia, variable immunodeficiency, sinopulmonary infections, oculocutaneous telangiectasiae, radiosensitivity, early ageing and increased incidence of cancer. The clinical and immunological preentation of A-T is very heterogeneous and diagnostically challenging, which leads to frequent misdiagnosis. We present the case of an 15-yeard old boy who has been clinically monitored at pediatric allergy and pulmology department for the last seven years due to A-T. At the moment of A-T diagnosis establishment, immunological work-up revealed hypogammaglobulinemia. Therefore, since the A-T diagnosis determination, the patient has been monthly administred at our hospital for intravenous immunoglobulin (IVIG) substitution (400 mg/kg every month), anti- asthma therapy, respiratory physical therapy and aggressive antibiotic treatment. Lately, his immunologic status assessment before treatment involves comprehensive immunophenotypization by flow cytometry in order to examine the phenotype of lymphocyte subsets using an in-house built flow cytometry panel. Extensive immunophenotyping of whole blood was performed using polychromatic flow cytometry. Peripheral whole blood samples were stained with the antibodies for cell surface markers CD45, CD3, CD4, CD8, CD19, CD56 and CD16 and for the two activation markers HLA-DR and CD27. Samples were lysed and fixed with 1x FACSLysing solution (BD Biosciences, USA). Upon centrifugation, leukocyte pellets were resuspended in 1% paraformaldehyde/PBS. Acquisition of samples was performed using the NaviosTM flow cytometer (Beckman Coulter, USA). Data was analyzed using the FlowLogicTM software package (Inivai Technologies, Australia). Severe B cell deficiency was detected in two consecutive immunophenotypizations of peripheral blood from A- T patient. Patient had low relative and absolute number of total B cells and lower absolute number of memory B cells (CD19+CD27+), while relative number of memory B cells was decreased. In addition, threefold increase in relative and absolute number of activated CD3+HLA-DR+ T cells was detected. In this case report, using flow cytometry and two polychromatic panels of antibodies, the disturbance of B cell and T cell homeostasis at one A-T patient was detected. Hypogammaglobulinemia accompained with combined T- cell and B-cell disorder will be further monitored with additional extensive immunophenotypization for the detection of T cell subsets (activated T cells, memory T cells, regulatory T cells) as well as B cell subsets (class switched and class non- switched B cells, plasmablasts and transitional B cells).

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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