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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hyper igd syndrome
Comorbidity C0015974|periodic fever
Sentences 9
PubMedID- 22159817 hyperimmunoglobulinemia d with periodic fever syndrome (hids) is a recessively inherited recurrent fever syndrome.
PubMedID- 23052671 Anakinra, a recombinant human interleukin-1beta receptor antagonist, is a promising new biologic agent for the treatment of autoinflammatory diseases such as cryopyrinopathies, tumor necrosis factor receptor-associated periodic syndrome, and hyperimmunoglobulinemia d with periodic fever syndrome.
PubMedID- 23692791 Mevalonate kinase deficiency (hyper igd syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.
PubMedID- 21647771 In this article we will focus on the review of those autoinflammatory diseases that often display ulcerative cutaneous and aphthous lesions including pyoderma gangrenosum, behcet disease, papa syndrome and hyperimmunoglobulinemia d with periodic fever syndrome (hids).
PubMedID- 20948856 There are at least five hpfs, which include two autosomal recessive conditions, familial mediterranean fever (fmf) and hyperimmunoglobulinemia d with periodic fever syndrome (hids), in addition to a group of autosomal dominant diseases, including tumor necrosis factor receptor-associated periodic syndrome (traps), pyogenic arthritis, pyoderma gangrenosum, and acne (papa) syndrome, as well as three related conditions, collectively termed the cryopyrin-associated periodic syndromes (caps).
PubMedID- 21360011 The other rather common monogenic diseases are the tumor necrosis factor receptor-associated periodic syndrome, hyperimmunoglobulinemia d with periodic fever syndrome, and cryopyrin-associated periodic fever syndromes (caps).
PubMedID- 21360512 It remains to be seen whether mutations of genes responsible for other autoinflammatory syndromes that respond to il-1 inhibitors, such as tnf receptor–associated periodic syndrome, pyogenic arthritis, pyoderma gangrenosum, and acne syndrome, and hyperimmunoglobulinemia d with periodic fever syndrome, are also associated with the same redox alterations linked to accelerated il-1β secretion in monocytes as we observed in patients with nlrp3 and nlrp12 mutations.
PubMedID- 21532836 Examples include tnf receptor-associated periodic syndrome (traps) [2], hyperimmunoglobulinemia d with periodic fever syndrome (hids) [5, 6], familial cold auto-inflammatory syndrome (fcas)/muckle-wells syndrome (mws), neonatal onset multisystem inflammatory disease (nomid) [7], deficiency of the interleukin-1-receptor antagonist (dira) [8, 9]; the granulomatous diseases such as blau syndrome [10], early onset sarcoidosis [11], and chronic granulomatous disease (cgd) [12]; and the pyogenic disorders majeed syndrome [13] and papa syndrome [14].
PubMedID- 19898878 hyperimmunoglobulinemia d with periodic fever syndrome (hids) is an autosomal recessively inherited periodic fever syndrome caused by mutations in the mvk gene, which codes for the enzyme mevalonate kinase [38, 39].

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