Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mariacarolina Salerno"'
Autor:
Mariacarolina Salerno, Donatella Capalbo, Raffaella Di Mase, Claudio Pignata, Nicola Improda, Carla Ungaro, Lucia De Martino, Emilia Cirillo, Paola Lorello
Publikováno v:
Frontiers in Pediatrics, Vol 4 (2016)
Frontiers in Pediatrics
Frontiers in Pediatrics
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), formerly known as Autoimmune Polyendocrine Syndrome type 1 (APS-1), is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AI
Autor:
Mariacarolina Salerno, Francesca Santamaria, Claudio Pignata, Silvia Montella, Esther van de Vosse, Rosa Romano, Giuliana Giardino, Jaap T. van Dissel, Loredana Palamaro, Alfredo Fusco, Matilde Valeria Ursini
Publikováno v:
Italian Journal of Pediatrics, Vol 39, Iss 1, p 12 (2013)
The Italian Journal of Pediatrics (Testo stamp.) 39:12 (2013). doi:10.1186/1824-7288-39-12
info:cnr-pdr/source/autori:van de Vosse E, van Dissel JT, Palamaro L, Giardino G, Santamaria F, Romano R, Fusco A, Montella S, Salerno M, Ursini MV, Pignata C./titolo:The R156H variation in IL-12R?1 is not a mutation./doi:10.1186%2F1824-7288-39-12/rivista:The Italian Journal of Pediatrics (Testo stamp.)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume:39:12
Italian Journal of Pediatrics, 39
The Italian Journal of Pediatrics (Testo stamp.) 39:12 (2013). doi:10.1186/1824-7288-39-12
info:cnr-pdr/source/autori:van de Vosse E, van Dissel JT, Palamaro L, Giardino G, Santamaria F, Romano R, Fusco A, Montella S, Salerno M, Ursini MV, Pignata C./titolo:The R156H variation in IL-12R?1 is not a mutation./doi:10.1186%2F1824-7288-39-12/rivista:The Italian Journal of Pediatrics (Testo stamp.)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume:39:12
Italian Journal of Pediatrics, 39
Palamaro et al. describe a child with recurrent bronchopneumonia and very high IgE levels in which a variation, R156H, was found in the IL12RB1 gene that encodes the IL-12Rβ1 chain. Based on the absence of this variation in 50 unrelated individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acafe29a719cfd31bbe37a338d5ebfca
https://hdl.handle.net/1887/98849
https://hdl.handle.net/1887/98849
Autor:
Claudio Pignata, Nicola Improda, Mariacarolina Salerno, Ida D'Acunzo, G Russo, Donatella Capalbo, Loredana Palamaro, Maria Alessio
Publikováno v:
Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 38, Iss 1, p 49 (2012)
Italian Journal of Pediatrics, Vol 38, Iss 1, p 49 (2012)
Introduction Antiphospholipid syndrome (APS) is characterized by recurrent arterial and venous thrombosis and detection of antiphospholipid antibodies (aPLs). This syndrome may be associated with connective tissue disorders, or with malignancies, but
Autor:
Mariacarolina Salerno, Marco Maglione, Carlo Caffarelli, Loredana Palamaro, Silvia Montella, Giuliana Giardino, Claudio Pignata, Francesca Santamaria, Matilde Valeria Ursini, Angela Di Giorgio, Virginia Mirra
Publikováno v:
Italian Journal of Pediatrics
Italian journal of pediatrics (Online) (2012): 38–45. doi:10.1186/1824-7288-38-45.
info:cnr-pdr/source/autori:Montella S, Maglione M, Giardino G, Di Giorgio A, Palamaro L, Mirra V, Ursini MV, Salerno M, Pignata C, Caffarelli C, Santamaria F./titolo:Hyper IgM syndrome presenting as chronic suppurative lung disease./doi:10.1186%2F1824-7288-38-45./rivista:Italian journal of pediatrics (Online)/anno:2012/pagina_da:38/pagina_a:45/intervallo_pagine:38–45/volume
Italian Journal of Pediatrics, Vol 38, Iss 1, p 45 (2012)
Italian journal of pediatrics (Online) (2012): 38–45. doi:10.1186/1824-7288-38-45.
info:cnr-pdr/source/autori:Montella S, Maglione M, Giardino G, Di Giorgio A, Palamaro L, Mirra V, Ursini MV, Salerno M, Pignata C, Caffarelli C, Santamaria F./titolo:Hyper IgM syndrome presenting as chronic suppurative lung disease./doi:10.1186%2F1824-7288-38-45./rivista:Italian journal of pediatrics (Online)/anno:2012/pagina_da:38/pagina_a:45/intervallo_pagine:38–45/volume
Italian Journal of Pediatrics, Vol 38, Iss 1, p 45 (2012)
The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination. Affected patients show humoral immunodeficiency and high susceptibility to opportunistic inf