Hyper-IgD Syndrome (HIDS)

The autoinflammatory syndromes are a group of diseases characterized by apparently spontaneous episodes of fever and inflammatory manifestations in several organs. Some of these conditions, such as familial Mediterranean fever (FMF), have been known for over a century, but others have only recently been defined. The discovery of the genetic defects underlying the pathophysiology of these diseases has been critical for their understanding and eventual grouping in a new category of diseases. Despite their rarity, the monogenic autoinflammatory syndromes are relevant because identification of the causative genetic variants has greatly expanded our understanding of the inflammatory process and the innate immune system and defined new diseases and their treatment. In addition, the autoinflammatory syndromes have been incorporated in the differential diagnosis of fever of unknown origin. In this chapter, the following selected syndromes are reviewed: FMF; cryopyrin-associated periodic syndromes; tumor necrosis factor–associated periodic fever syndrome; hyper-IgD syndrome; pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome; Blau syndrome; deficiency of the interleukin-1 receptor antagonist; Majeed syndrome; cherubism; joint contractures, muscular atrophy, macrocytic anemia, and panniculitis-associated lipodystrophy (JMP) syndrome; CANDLE syndrome; systemic-onset juvenile idiopathic arthritis; and adult-onset Still disease. Each syndrome is broken down by epidemiology, etiology, pathogenesis, diagnosis, differential diagnosis, management, complications, and prognosis. This review contains 4 highly rendered figures, 5 tables, and 96 references.

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Hyper IgD syndrome presenting as a magic syndrome a 20 year follow-up

Journal of the European Academy of Dermatology and Venereology ◽

10.1016/0926-9959(95)96193-c ◽

1995 ◽

Vol 5 (1) ◽

pp. S108

Author(s):

P Humbert

Keyword(s):

Hyper Igd Syndrome ◽

Magic Syndrome

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Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome

Blood ◽

10.1182/blood.v85.12.3586.bloodjournal85123586 ◽

1995 ◽

Vol 85 (12) ◽

pp. 3586-3593 ◽

Cited By ~ 83

Author(s):

JP Drenth ◽

M van Deuren ◽

J van der Ven-Jongekrijg ◽

CG Schalkwijk ◽

JW van der Meer

Keyword(s):

Acute Phase ◽

Acute Phase Proteins ◽

Ex Vivo ◽

Periodic Fever ◽

Plasma Concentrations ◽

Elevated Serum ◽

Tnf Alpha ◽

Joint Involvement ◽

Cytokine Activation ◽

Hyper Igd Syndrome

The hyperimmunoglobulinemia D and periodic fever (hyper-IgD) syndrome is typified by recurrent febrile attacks with abdominal distress, joint involvement (arthralgias/arthritis), headache, skin lesions, and an elevated serum IgD level (< 100 U/mL). This familial disorder has been diagnosed in 59 patients, mainly from Europe. The pathogenesis of this febrile disorder is unknown, but attacks are joined by an acute-phase response. Because this response is considered to be mediated by cytokines, we measured the acute-phase proteins C-reactive protein (CRP) and soluble type-II phospholipase A2 (PLA2) together with circulating concentrations and ex vivo production of the proinflammatory cytokines interleukin-1 alpha (IL-1 alpha), IL-1 beta, IL-6, and tumor necrosis factor alpha (TNF alpha) and the inhibitory compounds IL-1 receptor antagonist (IL-1ra), IL-10, and the soluble TNF receptors p55 (sTNFr p55) and p75 (sTNFr p75) in 22 patients with the hyper-IgD syndrome during attacks and remission. Serum CRP and PLA2 concentrations were elevated during attacks (mean, 213 mg/L and 1,452 ng/mL, respectively) and decreased between attacks. Plasma concentrations of IL-1 alpha, IL-1 beta, or IL-10 were not increased during attacks. TNF alpha concentrations were slightly, but significantly, higher with attacks (104 v 117 pg/mL). Circulating IL-6 values increased with attacks (19.7 v 147.9 pg/mL) and correlated with CRP and PLA2 values during the febrile attacks. The values of the antiinflammatory compounds IL-1ra, sTNFr p55, and sTNFr p75 were significantly higher with attacks than between attacks, and there was a significant positive correlation between each. The ex-vivo production of TNF alpha, IL-1 beta, and IL-1ra was significantly higher with attacks, suggesting that the monocytes/macrophages were already primed in vivo to produce increased amounts of these cytokines. These findings point to an activation of the cytokine network, and this suggests that these inflammatory mediators may contribute to the symptoms of the hyper-IgD syndrome.

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