𝔖 Bobbio Scriptorium
✦   LIBER   ✦

AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: A report of two cases

✍ Scribed by Helen J. Lachmann; Hugh J. B. Goodman; Peter A. Andrews; Hugh Gallagher; James Marsh; Stephan Breuer; Dorota M. Rowczenio; Alison Bybee; Philip N. Hawkins


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
90 KB
Volume
54
Category
Article
ISSN
0004-3591

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


First report of systemic reactive (AA) a
✍ Laura Obici; Carlo Manno; Andrea Onetti Muda; Paolo Picco; Andrea D'Osualdo; Gio πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 137 KB πŸ‘ 1 views

## Abstract Systemic reactive (AA) amyloidosis, leading to renal failure, is a severe complication of most hereditary periodic fever syndromes. The risk of developing this life‐threatening condition varies widely among these disorders, being higher for patients affected by familial Mediterranean fe

First report of macrophage activation sy
✍ Donato Rigante; Ettore Capoluongo; Barbara Bertoni; Valentina Ansuini; Antonio C πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 50 KB

## 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

Molecular analysis of the MVK and TNFRSF
✍ Silvia Stojanov; Peter Lohse; Pia Lohse; Florian Hoffmann; Ellen D. Renner; Step πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 304 KB πŸ‘ 2 views

## Abstract ## Objective To describe biochemical findings and the spectrum of mevalonate kinase (__MVK__) gene mutations as well as an associated __TNFRSF1A__ low‐penetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS).

Chromosome rearrangements in Cornelia de
✍ Cheryl DeScipio; Maninder Kaur; Dinah Yaeger; Jeffrey W. Innis; Nancy B. Spinner πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 200 KB πŸ‘ 2 views

## Abstract Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in __NIPBL__ have been found in ∼50% of individuals with CdLS. Numerous chro