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Clinical and immunological differentiation of isolated IgG and combined IgG & IgM deficiencies from common variable immunodeficiency. [PDF]
Dogru Y +4 more
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Zespół hiper-IgD (ang. hyper-IgD syndrome, HIDS). [W : zespoły autozapalne]
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Hyper-IgD syndrome or mevalonate kinase deficiency
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.
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A patient with hyper-IgD syndrome in Antalya, Turkey
Clinical Rheumatology, 2004Hyper-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, 1988We 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
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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
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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, 2006The 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
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
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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
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