SOLTÉSZ, Beáta, Beáta TÓTH, Anastasia BONDARENKO, Satoshi OKADA, Nadejda SHABASHOVA, Sophie CYPOWYJ, Avinash ABHYANKAR, Gabriella CSORBA, Szilvia TASKÓ, Adrien Katalin SARKADI, Leonóra MÉHES, Pavel ROZSÍVAL, David NEUMANN, Liudmyla CHERNYSHOVA, Zsolt TULASSAY, Anne PUEL, Jean Laurent CASANOVA, Anna SEDIVA, Jiří LITZMAN a László MARÓDI. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. Journal of Medical Genetics. London: British Medical Association, 2013, roč. 50, č. 9, s. 567-578. ISSN 0022-2593. doi:10.1136/jmedgenet-2013-101570.
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Základní údaje
Originální název New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
Autoři SOLTÉSZ, Beáta (348 Maďarsko), Beáta TÓTH (348 Maďarsko), Anastasia BONDARENKO (643 Rusko), Satoshi OKADA (840 Spojené státy), Nadejda SHABASHOVA (643 Rusko), Sophie CYPOWYJ (840 Spojené státy), Avinash ABHYANKAR (840 Spojené státy), Gabriella CSORBA (348 Maďarsko), Szilvia TASKÓ (348 Maďarsko), Adrien Katalin SARKADI (348 Maďarsko), Leonóra MÉHES (348 Maďarsko), Pavel ROZSÍVAL (203 Česká republika), David NEUMANN (203 Česká republika), Liudmyla CHERNYSHOVA (804 Ukrajina), Zsolt TULASSAY (348 Maďarsko), Anne PUEL (250 Francie), Jean Laurent CASANOVA (840 Spojené státy), Anna SEDIVA (203 Česká republika), Jiří LITZMAN (203 Česká republika, garant, domácí) a László MARÓDI (348 Maďarsko).
Vydání Journal of Medical Genetics, London, British Medical Association, 2013, 0022-2593.
Další údaje
Originální jazyk angličtina
Typ výsledku Článek v odborném periodiku
Obor 30102 Immunology
Stát vydavatele Velká Británie
Utajení není předmětem státního či obchodního tajemství
Impakt faktor Impact factor: 5.636
Kód RIV RIV/00216224:14110/13:00069232
Organizační jednotka Lékařská fakulta
Doi http://dx.doi.org/10.1136/jmedgenet-2013-101570
UT WoS 000323450200001
Klíčová slova anglicky INTERCELLULAR-ADHESION MOLECULE-1; SEQUENCING-BASED DISCOVERY; DNA-BINDING DOMAIN; HYPER-IGE SYNDROME; INBORN-ERRORS; IL-17 IMMUNITY; J PROJECT; DEFICIENCY; EXPRESSION; AUTOIMMUNITY
Příznaky Mezinárodní význam, Recenzováno
Změnil Změnila: Ing. Mgr. Věra Pospíšilíková, učo 9005. Změněno: 16. 9. 2013 14:50.
Anotace
Background Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT1. Several mutations, including R274W in particular, are recurrent, but the underlying mechanism is unclear. Objective To investigate and describe nine patients with CMCD in Eastern and Central Europe, to assess the biochemical impact of STAT1 mutations, to determine cytokines in supernatants of Candida-exposed blood cells, to determine IL-17-producing T cell subsets and to determine STAT1 haplotypes in a family with the c.820C>T (R274W) mutation. Results The novel c.537C>A (N179K) STAT1 mutation was gain-of-function (GOF) for -activated factor (GAF)-dependent cellular responses. In a Russian patient, the cause of CMCD was the newly identified c.854 A>G (Q285R) STAT1 mutation, which was also GOF for GAF-dependent responses. The c.1154C>T (T385M) mutation affecting the DNA-binding domain (DBD) resulted in a gain of STAT1 phosphorylation in a Ukrainian patient. Impaired Candida-induced IL-17A and IL-22 secretion by leucocytes and lower levels of intracellular IL-17 and IL-22 production by T cells were found in several patients. Haplotype studies indicated that the c.820C>T (R274W) mutation was recurrent due to a hotspot rather than a founder effect. Severe clinical phenotypes, including intracranial aneurysm, are presented. Conclusions The c.537C>A and c.854A>G mutations affecting the CCD and the c.1154C>T mutation affecting the DBD of STAT1 are GOF. The c.820C>T mutation of STAT1 in patients with CMCD is recurrent due to a hotspot. Patients carrying GOF mutations of STAT1 may develop multiple intracranial aneurysms by hitherto unknown mechanisms.
VytisknoutZobrazeno: 5. 7. 2022 23:47