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Pregled bibliografske jedinice broj: 697812

Genetic basis of primary immunodeficiencies in Croatian patients


Merkler, Ana; Richter, Darko; Kelecic, Jadranka; Ljubic, Hana; Caban, Domagoj; Sertic, Jadranka
Genetic basis of primary immunodeficiencies in Croatian patients // European Journal of Human Genetics,
Pariz, Francuska: Nature Publishing Group, 2013. str. 237-237 (poster, međunarodna recenzija, sažetak, znanstveni)


CROSBI ID: 697812 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Genetic basis of primary immunodeficiencies in Croatian patients

Autori
Merkler, Ana ; Richter, Darko ; Kelecic, Jadranka ; Ljubic, Hana ; Caban, Domagoj ; Sertic, Jadranka

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

Izvornik
European Journal of Human Genetics, / - : Nature Publishing Group, 2013, 237-237

Skup
European Human Genetics Conference 2013

Mjesto i datum
Pariz, Francuska, 08-11.06.2013

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
primary immunodeficiencies; BTK gene; SBDS gene; DNA sequencing

Sažetak
Introduction: Primary immunodeficiency diseases (PID) are a heterogenic group of rare inherited conditions that occur in individuals born with malfunctioned immune system. Objective: The objective was to confirm clinical diagnosis at molecular genetic level in patients with PID and to define carrier status by analyzing DNA samples of individuals with PID in family history. Methods: We analyzed 24 samples of genomic DNA: 11 samples of patients with suspicion on one of the PID and 13 samples of their family members. For identification of mutations in the coding region of analyzed genes, we used the sequencing method on Applied Biosystems 3130xl Genetic analyzer and BigDye® Terminator v3.1 Cycle Sequencing Kit. Results: In 2 patients with X-linked agammaglobulinemia, mutations in the BTK gene were found. In the first patient, mutation occurred de novo in mother‘s egg cells and, in the other, mutation was inherited from the mother. 3 patients with XLA suspicion didn‘t have mutation in the BTK gene. In 4 patients with cyclic and severe congenital neutropenia, 4 mutations occurred de novo in mother‘s egg cells were found. In 2 patients with suspicion on Shwachmann-Diamond syndrome mutation in SBDS gene inherited from the parents were found. Conclusions: Understanding the genetic basis of PID is the final step in confirmation of the PID diagnosis as it provides comprehension of disease mechanisms at the molecular level and correlation between genotype and phenotype of PID.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove:
Klinički bolnički centar Zagreb

Profili:

Avatar Url Domagoj Caban (autor)

Avatar Url Ana Merkler (autor)

Avatar Url Jadranka Sertić (autor)

Avatar Url Darko Richter (autor)


Citiraj ovu publikaciju

Merkler, Ana; Richter, Darko; Kelecic, Jadranka; Ljubic, Hana; Caban, Domagoj; Sertic, Jadranka
Genetic basis of primary immunodeficiencies in Croatian patients // European Journal of Human Genetics,
Pariz, Francuska: Nature Publishing Group, 2013. str. 237-237 (poster, međunarodna recenzija, sažetak, znanstveni)
Merkler, A., Richter, D., Kelecic, J., Ljubic, H., Caban, D. & Sertic, J. (2013) Genetic basis of primary immunodeficiencies in Croatian patients. U: European Journal of Human Genetics,.
@article{article, year = {2013}, pages = {237-237}, keywords = {primary immunodeficiencies, BTK gene, SBDS gene, DNA sequencing}, title = {Genetic basis of primary immunodeficiencies in Croatian patients}, keyword = {primary immunodeficiencies, BTK gene, SBDS gene, DNA sequencing}, publisher = {Nature Publishing Group}, publisherplace = {Pariz, Francuska} }
@article{article, year = {2013}, pages = {237-237}, keywords = {primary immunodeficiencies, BTK gene, SBDS gene, DNA sequencing}, title = {Genetic basis of primary immunodeficiencies in Croatian patients}, keyword = {primary immunodeficiencies, BTK gene, SBDS gene, DNA sequencing}, publisher = {Nature Publishing Group}, publisherplace = {Pariz, Francuska} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE





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