Results 121 to 130 of about 2,294 (167)

Hyper-IgD syndrome or mevalonate kinase deficiency

open access: yesCurrent Opinion in Rheumatology, 2011
The hyper-IgD and periodic fever syndrome (HIDS) is one of the classical monogenetic hereditary autoinflammatory disorders, and together with the more severe mevalonic aciduria it is also known as 'mevalonate kinase deficiency' (MKD). In this study, we will give an overview of the primary research on mevalonate kinase deficiency published in the past 2
Stoffels, M., Simon, A.
openaire   +3 more sources

A patient with hyper-IgD syndrome in Antalya, Turkey

Clinical Rheumatology, 2004
Hyper-IgD syndrome is a periodic fever syndrome that presents with recurrent episodes of high fever accompanied by lymphadenopathy, abdominal distress, arthralgias or arthritis, headache and skin lesions. The diagnosis is based on clinical grounds and elevated serum IgD levels (>100 U/ml), but requires a high index of suspicion, and a mevalonate kinase
Erkan Coban
exaly   +3 more sources

Hyper-IGD syndrome: A new case treated with colchicine

Clinical Rheumatology, 1988
We report a new case of hyper-IgD syndrome, a recently described disease characterized by recurrent episodes of fever with headache, bilateral cervical lymphadenopathy and, more rarely, abdominal pain and diarrhoea. Polyclonal increase of serum IgD is the most important laboratory finding.
P Lazzarin, S Todesco, P F Gambari
exaly   +3 more sources

Un cas de syndrome hyper-IgD

Revue Francophone Des Laboratoires, 2019
Resume Les fievres recurrentes de l’enfant sont de diagnostic etiologique difficile, car concernent des anomalies metaboliques ou genetiques souvent non encore connues. Elles sont associees a des maladies dont les mecanismes physiopathologiques, et donc les marqueurs biologiques, commencent a etre elucides.
Anaïs Nombel   +1 more
exaly   +2 more sources

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

Clinical Rheumatology, 2006
The hyperimmunoglobulinemia D periodic fever syndrome (HIDS) is caused by recessive mutations in the mevalonate kinase gene, which encodes an enzyme involved in cholesterol and nonsterol isoprenoid biosynthesis. The pathogenesis and treatment remains unclear. We describe a 6-year-old Turkish girl with severe disease.
Erkan Demirkaya   +2 more
exaly   +4 more sources

Diagnostic challenge of hyper-IgD syndrome in four children with inflammatory gastrointestinal complaints

open access: yesScandinavian Journal of Gastroenterology, 2006
OBJECTIVE: Hyper-IgD syndrome (HIDS) is a rare autosomal recessive disease characterized by recurrent fever, lymphadenopathy, diarrhoea, abdominal pain, headache, arthralgia and skin rash. Abdominal symptomatology may mimic inflammatory bowel disease. We
Egidio Barbi   +2 more
exaly   +3 more sources

Hyper-IgD Syndrome (HIDS)

open access: yes, 2021
Homa Seyedmirzaei, Nima Rezaei
openaire   +2 more sources

Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response

open access: yesJournal of Internal Medicine, 2004
Background. Classical type hyper-immunoglobulin D (IgD) syndrome (HTDS) is an hereditary autoinflammatory disorder, characterized by recurrent episodes of fever, lymphadenopathy, abdominal distress and a high serum concentration of IgD.
Anna Simon, J Bijzet, H A M Voorbij
exaly   +2 more sources

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