Literature DB >> 22431772

Chronic cutaneous pustulosis due to a 175-kb deletion on chromosome 2q13: excellent response to anakinra.

Cristina N Brau-Javier1, Jose Gonzales-Chavez, Jorge R Toro.   

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Year:  2012        PMID： 22431772      PMCID： PMC3313085          DOI： 10.1001/archdermatol.2011.2857

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN： 0003-987X


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  11 in total

1.  Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

Authors:  Alexandros Onoufriadis; Michael A Simpson; Andrew E Pink; Paola Di Meglio; Catherine H Smith; Venu Pullabhatla; Jo Knight; Sarah L Spain; Frank O Nestle; A David Burden; Francesca Capon; Richard C Trembath; Jonathan N Barker
Journal:  Am J Hum Genet       Date:  2011-08-11       Impact factor: 11.025

2.  An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.

Authors:  Ivona Aksentijevich; Seth L Masters; Polly J Ferguson; Paul Dancey; Joost Frenkel; Annet van Royen-Kerkhoff; Ron Laxer; Ulf Tedgård; Edward W Cowen; Tuyet-Hang Pham; Matthew Booty; Jacob D Estes; Netanya G Sandler; Nicole Plass; Deborah L Stone; Maria L Turner; Suvimol Hill; John A Butman; Rayfel Schneider; Paul Babyn; Hatem I El-Shanti; Elena Pope; Karyl Barron; Xinyu Bing; Arian Laurence; Chyi-Chia R Lee; Dawn Chapelle; Gillian I Clarke; Kamal Ohson; Marc Nicholson; Massimo Gadina; Barbara Yang; Benjamin D Korman; Peter K Gregersen; P Martin van Hagen; A Elisabeth Hak; Marjan Huizing; Proton Rahman; Daniel C Douek; Elaine F Remmers; Daniel L Kastner; Raphaela Goldbach-Mansky
Journal:  N Engl J Med       Date:  2009-06-04       Impact factor: 91.245

Review 3.  Diagnosis and management of autoinflammatory diseases in childhood.

Authors:  Marco Gattorno; Silvia Federici; Maria Antonietta Pelagatti; Roberta Caorsi; Giacomo Brisca; Clara Malattia; Alberto Martini
Journal:  J Clin Immunol       Date:  2008-03-27       Impact factor: 8.317

4.  Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

Authors:  P J Ferguson; S Chen; M K Tayeh; L Ochoa; S M Leal; A Pelet; A Munnich; S Lyonnet; H A Majeed; H El-Shanti
Journal:  J Med Genet       Date:  2005-07       Impact factor: 6.318

Review 5.  A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy.

Authors:  A M Prieur
Journal:  Clin Exp Rheumatol       Date:  2001 Jan-Feb       Impact factor: 4.473

6.  The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.

Authors:  H A Majeed; M Al-Tarawna; H El-Shanti; B Kamel; F Al-Khalaileh
Journal:  Eur J Pediatr       Date:  2001-12       Impact factor: 3.183

7.  Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

Authors:  Slaheddine Marrakchi; Philippe Guigue; Blair R Renshaw; Anne Puel; Xue-Yuan Pei; Sylvie Fraitag; Jihen Zribi; Elodie Bal; Céline Cluzeau; Maya Chrabieh; Jennifer E Towne; Jason Douangpanya; Christian Pons; Sourour Mansour; Valérie Serre; Hafedh Makni; Nadia Mahfoudh; Faiza Fakhfakh; Christine Bodemer; Josué Feingold; Smail Hadj-Rabia; Michel Favre; Emmanuelle Genin; Mourad Sahbatou; Arnold Munnich; Jean-Laurent Casanova; John E Sims; Hamida Turki; Hervé Bachelez; Asma Smahi
Journal:  N Engl J Med       Date:  2011-08-18       Impact factor: 91.245

Review 8.  Autoinflammatory diseases: clinical and genetic advances.

Authors:  Sharifeh Farasat; Ivona Aksentijevich; Jorge R Toro
Journal:  Arch Dermatol       Date:  2008-03

9.  An autoinflammatory disease due to homozygous deletion of the IL1RN locus.

Authors:  Sreelatha Reddy; Shuang Jia; Rhonda Geoffrey; Rachel Lorier; Mariko Suchi; Ulrich Broeckel; Martin J Hessner; James Verbsky
Journal:  N Engl J Med       Date:  2009-06-04       Impact factor: 91.245

10.  Infantile generalized pustular psoriasis associated with lytic lesions of the bone.

Authors:  R A Ivker; C M Grin-Jorgensen; V K Vega; D M Hoss; J M Grant-Kels
Journal:  Pediatr Dermatol       Date:  1993-09       Impact factor: 1.588
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  15 in total

1.  DIRA, DITRA, and new insights into pathways of skin inflammation: what's in a name?

Authors:  Edward W Cowen; Raphaela Goldbach-Mansky
Journal:  Arch Dermatol       Date:  2012-03

Review 2.  Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.

Authors:  Leonardo O Mendonca; Louise Malle; Frank X Donovan; Settara C Chandrasekharappa; Gina A Montealegre Sanchez; Megha Garg; Ulf Tedgard; Mariana Castells; Shiv S Saini; Sourabh Dutta; Raphaela Goldbach-Mansky; Deepti Suri; Adriana A Jesus
Journal:  J Clin Immunol       Date:  2017-05-15       Impact factor: 8.317

Review 3.  Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach.

Authors:  Peter A Nigrovic; Pui Y Lee; Hal M Hoffman
Journal:  J Allergy Clin Immunol       Date:  2020-11       Impact factor: 10.793

4.  Rilonacept maintains long-term inflammatory remission in patients with deficiency of the IL-1 receptor antagonist.

Authors:  Megha Garg; Adriana A de Jesus; Dawn Chapelle; Paul Dancey; Ronit Herzog; Rafael Rivas-Chacon; Theresa L Wampler Muskardin; Ann Reed; James C Reynolds; Raphaela Goldbach-Mansky; Gina A Montealegre Sanchez
Journal:  JCI Insight       Date:  2017-08-17

Review 5.  IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.

Authors:  Lori Broderick; Hal M Hoffman
Journal:  Nat Rev Rheumatol       Date:  2022-06-21       Impact factor: 32.286

Review 6.  Monogenic autoinflammatory diseases: concept and clinical manifestations.

Authors:  Adriana Almeida de Jesus; Raphaela Goldbach-Mansky
Journal:  Clin Immunol       Date:  2013-04-09       Impact factor: 3.969

Review 7.  Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers.

Authors:  Manisha Sharma; Polly J Ferguson
Journal:  Curr Opin Rheumatol       Date:  2013-09       Impact factor: 5.006

Review 8.  Recurrent Fevers for the Pediatric Immunologist: It's Not All Immunodeficiency.

Authors:  Lori Broderick
Journal:  Curr Allergy Asthma Rep       Date:  2016-01       Impact factor: 4.806

9.  A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.

Authors:  Ender Altiok; Figen Aksoy; Yıldız Perk; Fulya Taylan; Peter W Kim; Barbaros Ilıkkan; Gülten Turkkani Asal; Raphaela Goldbach-Mansky; Ozden Sanal
Journal:  Clin Immunol       Date:  2012-08-16       Impact factor: 3.969

10.  Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report.

Authors:  Ezgi Ulusoy; Neslihan Edeer Karaca; Hatem El-Shanti; Erhan Kilicoglu; Guzide Aksu; Necil Kutukculer
Journal:  J Med Case Rep       Date:  2015-06-23
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