Výsledky vyhledávání - "S.O. Salugina"

SAVI SYNDROME: LITERATURE REVIEW AND FAMILY CASE IN RHEUMATOLOGY AND PULMONOLOGY

Autor: N.S. Lev, S.O. Salugina, A.N. Shapovalenko, E.S. Fedorov, S.O. Zhikrivetskaya, A.V. Torgashina, O.A. Golovina

Publikováno v: Pediatria. Journal named after G.N. Speransky. 100:180-187

SAVI syndrome – STING-associated early-onset vasculopathy – a rare monogenic autosomal dominant autoinflammatory disease associated with a mutation in the TMEM173 gene, belongs to type 1 interferonopathies. It is characterized by early onset, fev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7f8049a772f3e30ce94a3ecb37db873a
https://doi.org/10.24110/0031-403x-2021-100-5-180-187

Zobrazit plný text záznamu

BLAU SYNDROME OR MONOGENOUS SARCOIDOSIS WITH EARLY ONSET: RUSSIAN COHORT OF PATIENTS

Autor: S.G. Radenska-Lopovok, A.N. Shapovalenko, E.S. Fedorov, I.P. Nikishina, S.O. Salugina, V.G. Matkava, E.Yu. Zakharova, E. A. Kamenets

Publikováno v: Pediatria. Journal named after G.N. Speransky. 100:99-109

Blau syndrome (BS) is a rare monogenic granulomatous autoinflammatory disease (a variant of genetically determined sarcoidosis) caused by a mutation of the NOD2/CARD15 gene, transmitted in an autosomal dominant manner and manifested by a triad of sig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5381a27cffe3fd03a17a0a9b6b4ae0bf
https://doi.org/10.24110/0031-403x-2021-100-5-99-109

Zobrazit plný text záznamu

MACROPHAGE ACTIVATION SYNDROME IN RHEUMATIC DISEASES IN CHILDREN: A RETROSPECTIVE STUDY

Autor: E.V. Nikolaeva, M. Kaleda, E.S. Fedorov, S.O. Salugina, I.P. Nikishina

Publikováno v: Pediatria. Journal named after G.N. Speransky. 100:53-61

Macrophage activation syndrome (MAS) is a rare life-threatening complication of rheumatic diseases (RD) that requires early recognition and adequate immediate treatment. Objective of the study: to identify the features of onset of RD in patients who

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ff86087e5edb78437ac7d4c6186286d2
https://doi.org/10.24110/0031-403x-2021-100-5-53-61

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Low-penetrance R92Q (p.Arg121Gln) mutation in the TNFRSF1A gene: the significance and variants of phenotypes. Successful experience with the interleukin-1 inhibitor canakinumab in a female patient, who is a carrier of R92Q mutation with a severe TRAPS phenotype

Autor: S.O. Salugina, E. A. Kamenets, E.S. Fedorov, E. Yu. Zakharova, A. N. Gerasimenko

Publikováno v: Modern Rheumatology Journal. 14:102-110

The paper is devoted to the assessment of the R92Q (p.Arg121Gln) mutation/polymorphism in the TNFRSF1A gene associated with the monogenic autoinflammatory disease – Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS). It gives data

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3cbe0b90c877434900f1aad5d99ee080
https://doi.org/10.14412/1996-7012-2020-3-102-110

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání