A patient with hyper-IgD syndrome responding to anti-TNF treatment

Demirkaya, Erkan; Cağlar, M; Waterham, Hans R.; Topaloğlu, Rezan; Özen, Seza

doi:10.1007/s10067-006-0501-1

Cited by 47 publications

(26 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Due to our knowledge, FMF and HIDS coexistence has not been reported before. HIDS registry in Nijmegen, Netherlands, currently has data on over 200 cases 126 of them were confirmed with mutation analysis and one of them from Turkey [10]. Our patient is the second Turkish case reported from Turkey, whose diagnosis was confirmed with homozygous V377I mutation analysis.…”

Section: Discussionmentioning

confidence: 52%

Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child

Yılmaz¹,

Sezer²,

Esmeray³

2015

Ann Clin Anal Med

View full text Add to dashboard Cite

ÖzetKalıtsal otoinflamatuvar sendromlar olarak bilinen kalıtsal periyodik ateş sendromları Mendeliyen kalıtımlı tek gen hastalıklardır, tekrarlayan ateş ve enflamasyon atakları ile karakterizedir. Ailesel Akdeniz Ateşi ve Hiperimmünglobulin D sendromu bunların prototipleridir ve otozomal resesif olarak kalıtılır. Tanı klinik seyir,aile öyküsünü temel alır ve genetic mutasyon analizi ile doğtulanır. İki yaşın-dan beri tekrarlayan ateş, cilt döküntüsü ve servikal lenfadenopati atakları olan beş yaşında erkek çocuk sunulmuştur. Genetik analizinde MEFV ve MVK genlerinde sırasıyla homozigot M694V ve V377I mutasyonları saptanmıştır. Yaptığımız literatür araştırmasına göre hastamız hem Ailesel Akdeniz Ateşi hem de Hiperimmüng-lobulin D sendromu klinik ve genetik özellikerini taşıyan ilk olgudur. Anahtar KelimelerAilesel Akdeniz Ateşi; Hiperimmünglobulin D Sendromu; Çocuklar Abstract Hereditary periodic fever syndromes are Mendelian inherited single gene diseases which are also known as hereditary autoinflammatory syndromes, are characterized by recurrent attacks of fever and inflammation. Familial Mediterranean Fever and Hyperimmunoglobulinemia D syndrome are prototypes and are inherited autosomal recessively. The diagnosis is based on clinical course, family history and is confirmed with genetic mutation analysis. We describe a 5-year-old boy who had recurrent attacks of fever, skin rash, and cervical lymphadenopathy since he was 2 years old. His genetic analysis revealed homozygous M694V and V377I for MEFV and MVK gene respectively. Due to our knowledge, this is the first report of a patient who has both HIDS and FMF clinical and genetic features.

show abstract

Section: Discussionmentioning

confidence: 52%

Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child

Yılmaz¹,

Sezer²,

Esmeray³

2015

Ann Clin Anal Med

View full text Add to dashboard Cite

show abstract

“…[1,11,[14][15][16] Colchicine and prednisolone had no beneficial effect in preventing the recurrence of attacks in our patient. Recent studies with the HMG-CoA-reductase inhibitor simvastatin have brought hopeful results for the treatment of this disease [3,4,17,18] Simon et al [4] reported that six patients with HIDS and proven MVK deficiency were followed up for two treatment periods with simvastatin, 80 mg/day, or placebo for 24 weeks separated by a four-week washout period in a double-blind manner Important reductions in the number of attacks and decreased urinary mevalonate were observed.…”

Section: Discussionmentioning

confidence: 95%

An Adolescent with Hyperimmunoglobulinemia D and Periodic Fever Syndrome Responding to Simvastatin Treatment

et al. 2011

View full text Add to dashboard Cite

“…Under these circumstances, the use of biological drugs (etanercept, IL-1 inhibitors) has allowed to manage febrile attacks recurrence according to certain anecdotal reports. 14,21,24,27 Other treatments, such as thalidomide, colchicine and simvastatin, were not effective. 28,29 …”

Section: Hereditary Periodic Fever Syndromes Familial Mediterranean Fmentioning

confidence: 99%

Autoinflammatory diseases in Pediatrics

Meiorin¹

2013

Arch Argent Pediat

View full text Add to dashboard Cite

Monogenic autoinflammatory syndromes are caused by mutations in protein-coding genes that have a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these syndromes usually begin during childhood. They are clinically characterized by recurrent episodes of systemic inflammation (fever with different clinical manifestations, such as skin rash, serositis or arthritis) associated with elevation of acute phase reactants. During symptomfree intervals, patients achieve clinical wellbeing and normalize inflammatory parameters. Amyloidosis is a serious long-term complication. In this update we will discuss the clinical presentation and therapeutic strategies for these diseases in pediatrics.

show abstract

A patient with hyper-IgD syndrome responding to anti-TNF treatment

Cited by 47 publications

References 7 publications

Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child

Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child

An Adolescent with Hyperimmunoglobulinemia D and Periodic Fever Syndrome Responding to Simvastatin Treatment

Autoinflammatory diseases in Pediatrics

Contact Info

Product

Resources

About