Monogenic Autoinflammatory Syndromes

2009 ◽  
pp. 33-49
Author(s):  
Marco Gattorno ◽  
Alberto Martini ◽  
Raphaela Goldbach-Mansky ◽  
Pamela Aubert ◽  
Polly J. Ferguson
Keyword(s):  
Autoinflammatory Syndromes

Pediatric hereditary autoinflammatory syndromes

2010 ◽  
Vol 86 (5) ◽  
pp. 353-366 ◽  
Author(s):  
Adriana Almeida Jesus ◽  
João Bosco Oliveira ◽  
Maria Odete Esteves Hilário ◽  
Maria Teresa R. A. Terreri ◽  
Erika Fujihira ◽  
...  
Keyword(s):  
Autoinflammatory Syndromes

scholarly journals Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with theCIAS1/PYPAF1/NALP3gene

2004 ◽  
Vol 50 (12) ◽  
pp. 4045-4050 ◽  
Author(s):  
Juan I. Aróstegui ◽  
Anna Aldea ◽  
Consuelo Modesto ◽  
Maria Jesús Rua ◽  
Federico Argüelles ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Autoinflammatory Syndromes

scholarly journals The pyrin inflammasome: from sensing RhoA GTPases-inhibiting toxins to triggering autoinflammatory syndromes

2018 ◽  
Vol 76 (3) ◽  
Author(s):  
Yvan Jamilloux ◽  
Flora Magnotti ◽  
Alexandre Belot ◽  
Thomas Henry
Keyword(s):  
Autoinflammatory Syndromes

Autoinflammatory Syndromes

2020 ◽  
pp. 147-152
Author(s):  
Haralampos M. Moutsopoulos ◽  
Evangelia Zampeli
Keyword(s):  
Autoinflammatory Syndromes

scholarly journals Acne Syndromes and Mosaicism

Biomedicines ◽  
2021 ◽  
Vol 9 (11) ◽  
pp. 1735
Author(s):  
Sumer Baroud ◽  
Jim Wu ◽  
Christos C. Zouboulis
Keyword(s):  
Polycystic Ovarian Syndrome ◽  
Somatic Mosaicism ◽  
Apert Syndrome ◽  
Adrenal Hyperplasia ◽  
Inflammatory Signaling ◽  
Autoinflammatory Syndromes ◽  
Fgfr2 Gene ◽  
Cutaneous Mosaicism ◽  
Inflammatory Changes ◽  
Ovarian Syndrome

Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and nonsegmental somatic mosaicism. Acne is a chronic illness characterized by inflammatory changes around and in the pilosebaceous units, commonly due to hormone- and inflammatory signaling-mediated factors. Several systemic disorders, such as congenital adrenal hyperplasia, polycystic ovarian syndrome, and seborrhoea-acne-hirsutism-androgenetic alopecia syndrome have classically been associated with acne. Autoinflammatory syndromes, including PAPA, PASH, PAPASH, PsAPASH, PsaPSASH, PASS, and SAPHO syndromes include acneiform lesions as a key manifestation. Mosaic germline mutations in the FGFR2 gene have been associated with Apert syndrome and nevus comedonicus, two illnesses that are accompanied by acneiform lesions. In this review, we summarize the concept of cutaneous mosaicism and elaborate on acne syndromes, as well as acneiform mosaicism.

Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study

2012 ◽  
Vol 32 (5) ◽  
pp. 922-932 ◽  
Author(s):  
Adriana A. Jesus ◽  
Erika Fujihira ◽  
Mariana Watase ◽  
Maria T. Terreri ◽  
Maria O. Hilario ◽  
...  
Keyword(s):  
Multicenter Study ◽  
Autoinflammatory Syndromes

Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes

2017 ◽  
Vol 38 (1) ◽  
pp. 13-24 ◽  
Author(s):  
Avinash Jain ◽  
Durga Prasanna Misra ◽  
Aman Sharma ◽  
Anupam Wakhlu ◽  
Vikas Agarwal ◽  
...  
Keyword(s):  
Autoinflammatory Syndromes
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