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Pregled bibliografske jedinice broj: 887639

A case study of primary immunodeficiency in a personalized medicine diagnostic perspective: novel mutations in an ataxia telangiectasia patient identified by next generation sequencing


Zenić, Lucija; Polančec, Denis; Živković, Jelena; Bulat Lokas, Sandra; Vlahoviček, Kristian; Turkalj, Mirjana
A case study of primary immunodeficiency in a personalized medicine diagnostic perspective: novel mutations in an ataxia telangiectasia patient identified by next generation sequencing // ISABS conference : abstracts
Dubrovnik, Hrvatska, 2017. str. xx-xx (poster, međunarodna recenzija, sažetak, znanstveni)


CROSBI ID: 887639 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
A case study of primary immunodeficiency in a personalized medicine diagnostic perspective: novel mutations in an ataxia telangiectasia patient identified by next generation sequencing

Autori
Zenić, Lucija ; Polančec, Denis ; Živković, Jelena ; Bulat Lokas, Sandra ; Vlahoviček, Kristian ; Turkalj, Mirjana

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

Izvornik
ISABS conference : abstracts / - , 2017, Xx-xx

Skup
ISABS conference

Mjesto i datum
Dubrovnik, Hrvatska, 19.-24.06.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Respiratory infection, flow cytometry, sequencing (NGS) technology

Sažetak
In a translational medicine concept, we aim to combine clinical, immunological and genetic aspects of the primary immunodeficiency diagnostics in order to improve treatment decisions and prevention strategies of these disorders. In this approach, the assessment of the immune imbalance by flow cytometry combined with the next generation sequencing (NGS) technology represents an unprecedented tool in immunogenetic diagnostics of rare and monogenic diseases in the new era of precision medicine. A 16 year-old male patient has been admitted to our hospital due to recurrent respiratory infections and hypogammaglobulinemia, and was diagnosed with ataxia telangiectasia (A-T)-a rare genetic disorder of neurologic impairment and immune deficiency. We performed the flow cytometry immunophenotyping of peripheral blood using a 6- and 7-colour antibody panels for the analysis of T cells, B cells and NK cells (Table 1, Panel 1 and 2) and the B cell subsets (Table 2), as well as the targeted NGS analysis using the TrueSeq Custom Amplicon panel and the TruSeq Custom Amplicon Low Imput kit followed by sequencing on the MiniSeq system (Illumina, USA) to screen for the variants of the immunodeficiency genes involved in the predominantly antibody deficiency and combined immunodeficiencies with associated or syndromic features (Table 3, Panel 1 and 2). Immunophenotyping revealed a decrease or a complete loss of the CD4+ T lymphocytes, B lymphocytes, transitional B lymphocytes, class- switched memory B lymphocytes and plasmablasts (the latter not shown) ; an increase of the CD3+HLA-DR+ activated T lymphocytes (Figure 1) ; and an appearance of a peculiar CD45dimCD38++CD27+CD56+ population (Figure 2). The targeted NGS analysis identified 3 novel missense variants in i) meiotic recombination 11 (MRE11) gene, ii) ataxia telangiectasia and Rad3-related protein (ATR) gene, and iii) B-cell linker protein (BLNK) gene, with the in silico predictions as possibly deleterious (Figure 3). We here report novel variants detected by NGS in the A-T patient previously not reported in clinical practice. Given their potentially pathogenic nature, i.e. the phenotypic association with leukemia (BLNK gene), the appearance of the CD45dimCD38+CD27+CD56+ population, and an increased alpha-fetoprotein level, a further treatment of the patient requires a close monitoring for the potential development of malignancy - the main cause of premature death of A-T patients, by means of a tight integration of immunogenetic diagnostic tools in a personalized medicine perspective.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove:
Dječja bolnica Srebrnjak


Citiraj ovu publikaciju

Zenić, Lucija; Polančec, Denis; Živković, Jelena; Bulat Lokas, Sandra; Vlahoviček, Kristian; Turkalj, Mirjana
A case study of primary immunodeficiency in a personalized medicine diagnostic perspective: novel mutations in an ataxia telangiectasia patient identified by next generation sequencing // ISABS conference : abstracts
Dubrovnik, Hrvatska, 2017. str. xx-xx (poster, međunarodna recenzija, sažetak, znanstveni)
Zenić, L., Polančec, D., Živković, J., Bulat Lokas, S., Vlahoviček, K. & Turkalj, M. (2017) A case study of primary immunodeficiency in a personalized medicine diagnostic perspective: novel mutations in an ataxia telangiectasia patient identified by next generation sequencing. U: ISABS conference : abstracts.
@article{article, year = {2017}, pages = {xx-xx}, keywords = {Respiratory infection, flow cytometry, sequencing (NGS) technology}, title = {A case study of primary immunodeficiency in a personalized medicine diagnostic perspective: novel mutations in an ataxia telangiectasia patient identified by next generation sequencing}, keyword = {Respiratory infection, flow cytometry, sequencing (NGS) technology}, publisherplace = {Dubrovnik, Hrvatska} }
@article{article, year = {2017}, pages = {xx-xx}, keywords = {Respiratory infection, flow cytometry, sequencing (NGS) technology}, title = {A case study of primary immunodeficiency in a personalized medicine diagnostic perspective: novel mutations in an ataxia telangiectasia patient identified by next generation sequencing}, keyword = {Respiratory infection, flow cytometry, sequencing (NGS) technology}, publisherplace = {Dubrovnik, Hrvatska} }




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