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A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome

✍ Scribed by Anna Simon; Edwin C Mariman; Jos W.M van der Meer; Joost P.H Drenth


Book ID
117014102
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
362 KB
Volume
114
Category
Article
ISSN
1555-7162

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## Abstract We describe for the first time a case of macrophage activation syndrome in a child with hyperimmunoglobulinemia D with periodic fever syndrome who required intensive care support. Up‐regulated monokine production, high serum levels of triglycerides and ferritin, clotting abnormalities w