These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature. Gençpınar P; Makay BB; Gattorno M; Caroli F; Ünsal E Turk J Pediatr; 2012; 54(6):641-4. PubMed ID: 23692791 [TBL] [Abstract][Full Text] [Related]
4. Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children. Lainka E; Neudorf U; Lohse P; Timmann C; Bielak M; Stojanov S; Huss K; von Kries R; Niehues T Rheumatol Int; 2012 Oct; 32(10):3253-60. PubMed ID: 22038276 [TBL] [Abstract][Full Text] [Related]
5. Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype. Santos JA; Aróstegui JI; Brito MJ; Neves C; Conde M Gene; 2014 Jun; 542(2):217-20. PubMed ID: 24656624 [TBL] [Abstract][Full Text] [Related]
6. Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred. Moussa T; Aladbe B; Taha RZ; Remmers EF; El-Shanti H; Fathalla BM J Clin Immunol; 2015 Apr; 35(3):249-53. PubMed ID: 25708585 [TBL] [Abstract][Full Text] [Related]
7. [Mevalonate kinase deficiency in 2016]. Galeotti C; Georgin-Lavialle S; Sarrabay G; Touitou I; Koné-Paut I Rev Med Interne; 2018 Apr; 39(4):265-270. PubMed ID: 27659743 [TBL] [Abstract][Full Text] [Related]
9. Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF. Karacan İ; Uğurlu S; Tolun A; Tahir Turanlı E; Ozdogan H Clin Exp Rheumatol; 2017; 35 Suppl 108(6):75-81. PubMed ID: 29148404 [TBL] [Abstract][Full Text] [Related]
10. Diagnosis and management of autoinflammatory diseases in childhood. Gattorno M; Federici S; Pelagatti MA; Caorsi R; Brisca G; Malattia C; Martini A J Clin Immunol; 2008 May; 28 Suppl 1():S73-83. PubMed ID: 18368292 [TBL] [Abstract][Full Text] [Related]
11. Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study. Karacan İ; Balamir A; Uğurlu S; Aydın AK; Everest E; Zor S; Önen MÖ; Daşdemir S; Özkaya O; Sözeri B; Tufan A; Yıldırım DG; Yüksel S; Ayaz NA; Ömeroğlu RE; Öztürk K; Çakan M; Söylemezoğlu O; Şahin S; Barut K; Adroviç A; Seyahi E; Özdoğan H; Kasapçopur Ö; Turanlı ET Rheumatol Int; 2019 May; 39(5):911-919. PubMed ID: 30783801 [TBL] [Abstract][Full Text] [Related]
12. International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome. Ozen S; Kuemmerle-Deschner JB; Cimaz R; Livneh A; Quartier P; Kone-Paut I; Zeft A; Spalding S; Gul A; Hentgen V; Savic S; Foeldvari I; Frenkel J; Cantarini L; Patel D; Weiss J; Marinsek N; Degun R; Lomax KG; Lachmann HJ Arthritis Care Res (Hoboken); 2017 Apr; 69(4):578-586. PubMed ID: 27723279 [TBL] [Abstract][Full Text] [Related]
13. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. van der Hilst JCH; Bodar EJ; Barron KS; Frenkel J; Drenth JPH; van der Meer JWM; Simon A; Medicine (Baltimore); 2008 Nov; 87(6):301-310. PubMed ID: 19011501 [TBL] [Abstract][Full Text] [Related]
20. Extensive thrombosis in a patient with familial Mediterranean fever, despite hyperimmunoglobulin D state in serum. [corrected]. Joo K; Park W; Chung MH; Lim MJ; Jung KH; Heo Y; Kwon SR J Korean Med Sci; 2013 Feb; 28(2):328-30. PubMed ID: 23400211 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]