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Pregled bibliografske jedinice broj: 673250

Autoimmune lymphoproliferative syndrome presenting as orbital pseudotumor in a 13-year old girl


Voskresensky Baričić, Tamara; Petrinović-Dorešić, Jelena; Gagro, Alenka; Jakovljević, Gordana; Bonevski, Aleksandra
Autoimmune lymphoproliferative syndrome presenting as orbital pseudotumor in a 13-year old girl // Acta Ophthalmologica (2013) (znanstveni, poslan)


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Naslov
Autoimmune lymphoproliferative syndrome presenting as orbital pseudotumor in a 13-year old girl

Autori
Voskresensky Baričić, Tamara ; Petrinović-Dorešić, Jelena ; Gagro, Alenka ; Jakovljević, Gordana ; Bonevski, Aleksandra

Vrsta, podvrsta
Radovi u časopisima, znanstveni

Izvornik
Acta Ophthalmologica (2013)

Status rada
Poslan

Ključne riječi
Autoimmune; pseudotumor; orbit; child

Sažetak
Autoimmune lymphoproliferative syndrome (ALPS) is one of primary immunodeficiency syndromes recently recognized as distinct entity. Most cases are diagnosed in adults, although presentations in children are seen. The syndrome is characterized by generalized lymphadenopathy, splenomegaly and autoimmune cytopenias. Characteristic immunologic feature and the hallmark of ALPS is an elevated number of CD4/CD8 double negative αβ T cells (DNT cells). Due to mutations coding FAS cell surface receptor, defective lymphocyte apoptosis is present, making this syndrome the first genetically defined disease of cell apoptosis. We describe a 13 years old girl with orbital tumor in whom a diagnosis of ALPS was made by determination of DNT cells, functional apoptosis test and genetic analysis of FAS gen. To best of our knowledge, no eye involvement in diagnosed ALPS has been described in published literature.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
072-1080229-0337 - Modulacija funkcije ljudskih regulacijskih T-limfocita (Gagro, Alenka, MZOS ) ( POIROT)

Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta,
Klinička bolnica "Sveti Duh"


Citiraj ovu publikaciju

Voskresensky Baričić, Tamara; Petrinović-Dorešić, Jelena; Gagro, Alenka; Jakovljević, Gordana; Bonevski, Aleksandra
Autoimmune lymphoproliferative syndrome presenting as orbital pseudotumor in a 13-year old girl // Acta Ophthalmologica (2013) (znanstveni, poslan)
Voskresensky Baričić, T., Petrinović-Dorešić, J., Gagro, A., Jakovljević, G. & Bonevski, A. (2013) Autoimmune lymphoproliferative syndrome presenting as orbital pseudotumor in a 13-year old girl. Poslan u Acta Ophthalmologica. [Preprint].
@unknown{unknown, year = {2013}, keywords = {Autoimmune, pseudotumor, orbit, child}, journal = {Acta Ophthalmologica}, title = {Autoimmune lymphoproliferative syndrome presenting as orbital pseudotumor in a 13-year old girl}, keyword = {Autoimmune, pseudotumor, orbit, child} }
@unknown{unknown, year = {2013}, keywords = {Autoimmune, pseudotumor, orbit, child}, journal = {Acta Ophthalmologica}, title = {Autoimmune lymphoproliferative syndrome presenting as orbital pseudotumor in a 13-year old girl}, keyword = {Autoimmune, pseudotumor, orbit, child} }

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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