Zobrazeno 1 - 10
of 552
pro vyhledávání: '"ADENOSINE DEAMINASE 2"'
Autor:
Çağrı Coşkun, Şule Ünal
Publikováno v:
Turkish Journal of Hematology, Vol 41, Iss 3, Pp 133-140 (2024)
Adenosine deaminase 2 (ADA2) deficiency is an autosomal recessively inherited autoinflammatory disorder caused by loss-of-function mutations in the ADA2 gene. Although the pathogenesis involves the triggering of a proinflammatory cascade due to incre
Externí odkaz:
https://doaj.org/article/72e213619c734701b6b135de1eb87be9
Autor:
Kosar Asna Ashari, Nahid Aslani, Nima Parvaneh, Raheleh Assari, Morteza Heidari, Mohammadreza Fathi, Fatemeh Tahghighi Sharabian, Alireza Ronagh, Mohammad Shahrooei, Alireza Moafi, Nima Rezaei, Vahid Ziaee
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-8 (2023)
Abstract Background Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease caused by mutations in the ADA2 gene. DADA2 has a broad spectrum of clinical presentations. Apart from systemic manifestations, we can
Externí odkaz:
https://doaj.org/article/4049764426fb404f90cf42653a6acc8d
Autor:
Adriana Melo, Luciana Martins de Carvalho, Virginia Paes Leme Ferriani, André Cavalcanti, Simone Appenzeller, Valéria Rossato Oliveira, Herberto Chong Neto, Nelson Augusto Rosário, Fabiano de Oliveira Poswar, Matheus Xavier Guimaraes, Cristina Maria Kokron, Rayana Elias Maia, Guilherme Diogo Silva, Gabriel Keller, Mauricio Domingues Ferreira, Dewton Moraes Vasconcelos, Myrthes Anna Maragna Toledo-Barros, Samar Freschi Barros, Nilton Salles Rosa Neto, Marta Helena Krieger, Jorge Kalil, Leonardo Oliveira Mendonça
Publikováno v:
Advances in Rheumatology, Vol 63, Iss 1, Pp 1-9 (2023)
Abstract Introduction The deficiency of ADA2 (DADA2) is a rare autoinflammatory disease provoked by mutations in the ADA2 gene inherited in a recessive fashion. Up to this moment there is no consensus for the treatment of DADA2 and anti-TNF is the th
Externí odkaz:
https://doaj.org/article/da1337cbd1944895962380685abe332e
Autor:
Ilaria Maccora, Valerio Maniscalco, Silvia Campani, Simona Carrera, Giulia Abbati, Edoardo Marrani, Maria Vincenza Mastrolia, Gabriele Simonini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
Abstract Introduction Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease, whose clinical phenotype was expanded since the first cases, originally described as mimicker of polyarteritis nodosa, with immunodeficien
Externí odkaz:
https://doaj.org/article/dfaaa278c2c84a43ac5c31ba7e5d7fad
Publikováno v:
Rheumatology, Vol 61, Iss 1, Pp 45-54 (2023)
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive that was first described in 2014. It is a monogenic disease that is caused by loss-of-function variants in the ADA2 gene. DADA2 involves small- and medium-sized vessels and its cli
Externí odkaz:
https://doaj.org/article/48ce1d1160c4480280392459a3921645
Publikováno v:
Reumatismo, Vol 75, Iss 3 (2023)
Adenosine deaminase 2 deficiency (DADA2) is a rare monogenic vasculopathy caused by loss-of-function homozygous or compound heterozygous mutations in ADA2, formerly CECR1 (cat eye syndrome chromosome region 1) gene. The DADA2 phenotype is widely hete
Externí odkaz:
https://doaj.org/article/a10e013d64cb4222ad074c280a4397e5
Autor:
Delia Nicoară, Cristina Niță, Ana Stanilă, Alexandru Martiniuc, Laura Popa, Eliana Petrescu, Mihaela Bătăneant, Ruxandra Ciofu, Adriana Guriță, Radu Tabăcaru, Ruxandra Ionescu, Laura Groșeanu
Publikováno v:
Immunity, Inflammation and Disease, Vol 11, Iss 8, Pp n/a-n/a (2023)
Abstract Background The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss‐of‐function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Dise
Externí odkaz:
https://doaj.org/article/c80790c648804cab8f681327b39215cb
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 20, Iss 1, Pp 1-5 (2022)
Abstract Background Adenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common manifestations include peripheral vasculopathy, early-onset stroke, immunodeficiency, and haematolo
Externí odkaz:
https://doaj.org/article/7959b3ad2f634f4c88a831f77ea3dc9a
Autor:
Diana Simão Raimundo, Ana Isabel Cordeiro, João Parente Freixo, Marta Valente Pinto, Conceição Neves, João Farela Neves
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Deficiency of adenosine deaminase 2 (DADA2), first reported in 2014, is a disease with great phenotypic variability, which has been increasingly reported. Therapeutic response depends on the phenotype. We present a case of an adolescent with recurren
Externí odkaz:
https://doaj.org/article/ae68f6160c3543dcbe1c84a28a81d5d3
Autor:
Federica Pulvirenti, Bianca Laura Cinicola, Simona Ferrari, Daniele Guadagnolo, Eleonora Sculco, Martina Capponi, Lorenzo Loffredo, Maddalena Sciannamea, Antonella Insalaco, Isabella Quinti, Fabrizio De Benedetti, Anna Maria Zicari
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Deficiency of adenosine deaminase 2 (DADA2) is a rare systemic autoinflammatory disease, typically with autosomal recessive inheritance, usually caused by biallelic loss of function mutations in the ADA2 gene. The phenotypic spectrum is broad, genera
Externí odkaz:
https://doaj.org/article/e6f486c3deed4e109a431f0264f6e2d3