Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Paula Klemetti"'
Autor:
Eetu Pello, MD, Leena Kainulainen, MD, PhD, Mikko Vakkilainen, MSc, Paula Klemetti, MD, PhD, Mervi Taskinen, MD, PhD, Outi Mäkitie, MD, PhD, Svetlana Vakkilainen, MD, PhD
Publikováno v:
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 1, Pp 100190- (2024)
Background: Cartilage–hair hypoplasia (CHH) is a syndromic inborn error of immunity caused by variants in the RMRP gene. Disease manifestations vary, and their ability to predict outcome is uncertain. The optimal management of infants with CHH who
Externí odkaz:
https://doaj.org/article/ab35bfd8701d45edb02fe235ad93b1ef
Autor:
Svetlana Vakkilainen, Laura Puhakka, Paula Klemetti, Kaarina Heiskanen, Mikko Seppänen, Mikko Muona, Celine Posseme, Darragh Duffy, Timo Väisänen, Outi Elomaa, Maarit Palomäki, Harri Saxén, Annamari Ranki, Katariina Hannula-Jouppi
Publikováno v:
Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 789-796 (2019)
Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features. Some DSG1 variant carriers present with SAM syndrome (Severe dermatitis, multiple A
Externí odkaz:
https://doaj.org/article/ea51798fe2ea4e9f8834bf9e0e71c48c
Autor:
Elina Eränkö, Mette Ilander, Mirja Tuomiranta, Antti Mäkitie, Tea Lassila, Anna Kreutzman, Paula Klemetti, Satu Mustjoki, Katariina Hannula-Jouppi, Annamari Ranki
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background Netherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect and a severe atopic diathesis. NS patients are prone to bacterial infections, but the understanding of the und
Externí odkaz:
https://doaj.org/article/fd936dcaf01043d3aaef1cce47a5bb67
Autor:
Svetlana Vakkilainen, Iivari Kleino, Jarno Honkanen, Harri Salo, Leena Kainulainen, Michaela Gräsbeck, Eliisa Kekäläinen, Outi Mäkitie, Paula Klemetti
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
BackgroundLive viral vaccines are generally contraindicated in patients with combined immunodeficiency including cartilage-hair hypoplasia (CHH); however, they may be tolerated in milder syndromes. We evaluated the safety and efficacy of live viral v
Externí odkaz:
https://doaj.org/article/792cb8369c1944449673d89f976f593d
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Cartilage-hair hypoplasia (CHH) is a skeletal dysplasia with combined immunodeficiency, variable clinical course and increased risk of malignancy. Management of CHH is complicated by a paucity of long-term follow-up data, as well as knowledge on prog
Externí odkaz:
https://doaj.org/article/27979fc6dd234b9aa9d21d3bb22bffd0
Autor:
Svetlana Vakkilainen, Riikka Mäkitie, Paula Klemetti, Helena Valta, Mervi Taskinen, Eystein Sverre Husebye, Outi Mäkitie
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
Background: Mutations in RMRP, encoding a non-coding RNA molecule, underlie cartilage-hair hypoplasia (CHH), a syndromic immunodeficiency with multiple pathogenetic mechanisms and variable phenotype. Allergy and asthma have been reported in the CHH p
Externí odkaz:
https://doaj.org/article/2df9eafad7ed47d992729782937a864d
Autor:
Janne K Nieminen, Mirja Niemi, Taina Sipponen, Harri M Salo, Paula Klemetti, Martti Färkkilä, Jukka Vakkila, Outi Vaarala
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e70738 (2013)
Abnormalities of dendritic cells (DCs) and STAT proteins have been reported in Crohn's disease (CD). Studies on JAK/STAT signaling in DCs are, however, lacking in CD. We applied a flowcytometric single-cell-based phosphoepitope assay to evaluate STAT
Externí odkaz:
https://doaj.org/article/3bafaa11e0354d1e91441107affa76d9
Autor:
Sanna Toiviainen-Salo, Helena Valta, Mervi Taskinen, Outi Mäkitie, Svetlana Kostjukovits, Paula Klemetti
Publikováno v:
Clinical Genetics. 92:204-207
The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variabili
Autor:
Katariina Hannula-Jouppi, Outi Elomaa, Svetlana Vakkilainen, Annamari Ranki, Laura Puhakka, Darragh Duffy, Celine Posseme, Kaarina Heiskanen, Maarit Palomäki, Harri Saxen, Timo Väisänen, Mikko Seppänen, Mikko Muona, Paula Klemetti
Publikováno v:
Acta Dermato-Venereologica
Acta Dermato-Venereologica, Society for Publication of Acta Dermato-Venereologica, 2019, ⟨10.2340/00015555-3203⟩
Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 789-796 (2019)
Acta Dermato-Venereologica, 2019, ⟨10.2340/00015555-3203⟩
Acta Dermato-Venereologica, Society for Publication of Acta Dermato-Venereologica, 2019, ⟨10.2340/00015555-3203⟩
Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 789-796 (2019)
Acta Dermato-Venereologica, 2019, ⟨10.2340/00015555-3203⟩
International audience; Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features. Some DSG1 variant carriers present with SAM syndrome (Sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f411008600d898a46d430b24664ac8b3
https://hal-pasteur.archives-ouvertes.fr/pasteur-02173489/document
https://hal-pasteur.archives-ouvertes.fr/pasteur-02173489/document
Autor:
Paula Klemetti, Anne Puustinen Wikström, Martti Färkkilä, Tytti Jaakkola, Kaija-Leena Kolho, Kaarina Heiskanen, Laura Merras-Salmio, Maija Piekkala, Henrik Alfthan
Publikováno v:
Journal of pediatric gastroenterology and nutrition. 66(6)
Measuring fecal calprotectin (FC) in a laboratory is time-consuming and that is why home tests have been developed. We studied the use of an FC home test in pediatric patients with inflammatory bowel disease (PIBD) in real-life settings.The patients