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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.
Další formáty: BibTeX LaTeX RIS @article{1121836, author = {Soltész, Beáta and Tóth, Beáta and Bondarenko, Anastasia and Okada, Satoshi and Shabashova, Nadejda and Cypowyj, Sophie and Abhyankar, Avinash and Csorba, Gabriella and Taskó, Szilvia and Sarkadi, Adrien Katalin and Méhes, Leonóra and Rozsíval, Pavel and Neumann, David and Chernyshova, Liudmyla and Tulassay, Zsolt and Puel, Anne and Casanova, Jean Laurent and Sediva, Anna and Litzman, Jiří and Maródi, László}, article_location = {London}, article_number = {9}, doi = {http://dx.doi.org/10.1136/jmedgenet-2013-101570}, keywords = {INTERCELLULAR-ADHESION MOLECULE-1; SEQUENCING-BASED DISCOVERY; DNA-BINDING DOMAIN; HYPER-IGE SYNDROME; INBORN-ERRORS; IL-17 IMMUNITY; J PROJECT; DEFICIENCY; EXPRESSION; AUTOIMMUNITY}, language = {eng}, issn = {0022-2593}, journal = {Journal of Medical Genetics}, title = {New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe}, volume = {50}, year = {2013} } TY - JOUR ID - 1121836 AU - Soltész, Beáta - Tóth, Beáta - Bondarenko, Anastasia - Okada, Satoshi - Shabashova, Nadejda - Cypowyj, Sophie - Abhyankar, Avinash - Csorba, Gabriella - Taskó, Szilvia - Sarkadi, Adrien Katalin - Méhes, Leonóra - Rozsíval, Pavel - Neumann, David - Chernyshova, Liudmyla - Tulassay, Zsolt - Puel, Anne - Casanova, Jean Laurent - Sediva, Anna - Litzman, Jiří - Maródi, László PY - 2013 TI - New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe JF - Journal of Medical Genetics VL - 50 IS - 9 SP - 567-578 EP - 567-578 PB - British Medical Association SN - 00222593 KW - INTERCELLULAR-ADHESION MOLECULE-1 KW - SEQUENCING-BASED DISCOVERY KW - DNA-BINDING DOMAIN KW - HYPER-IGE SYNDROME KW - INBORN-ERRORS KW - IL-17 IMMUNITY KW - J PROJECT KW - DEFICIENCY KW - EXPRESSION KW - AUTOIMMUNITY N2 - 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. ER - 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. \textit{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.

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.

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.