Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases [PDF]
Frontiers in Immunology, 2022 Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit. The current model of HS pathophysiology describes the condition as the product of hyperkeratinisation and inflammation at the hair follicular unit.
Philippe Guillem +14 more
doaj +4 more sources
Nummular keratopathy in a patient with Hyper-IgD Syndrome [PDF]
Pediatric Rheumatology Online Journal, 2009 Purpose To report a case of recurrent nummular keratitis in a pediatric patient with Hyperimmunoglobulinemia D syndrome. Methods A retrospective chart review.
Culican Susan M, Kraus Courtney L
doaj +5 more sources
Interleukin 1 blockade withcanakinumab for Hyper IGD syndrome (HIDS) [PDF]
Pediatr Rheumatol Online J, 2015 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM# 260920) is a rare autosomal recessive autoinflammatory condition caused by mutations in the MVK gene, which encodes for mevalonate kinase. There is no standard treatment for HIDS. Therefore new therapeutic options might be developed.
Brunnner J +4 more
europepmc +4 more sources
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? [PDF]
Semin Immunopathol, 2015 Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. In this review, we will discuss new findings in this disorder that have been published in the last 2 years. This includes new insights into pathophysiology, treatment, and the clinical phenotype linked to the ...
Mulders-Manders CM, Simon A.
europepmc +8 more sources
A case report of Hyper‐IgD syndrome in a 5‐year‐old girl with recurrent fever, skin rash, and arthralgia; novel MVK mutation (C.298G>A) [PDF]
Clinical Case ReportsKey Clinical Message This case highlights the potential for later‐onset Hyper‐IgD syndrome (HIDS) even beyond infancy. Clinicians evaluating children with recurrent fever, skin rash, and arthralgia should consider HIDS in the differential diagnosis ...
Pooneh Tabibi +2 more
doaj +2 more sources
Hyper-IgD syndrome and hereditary periodic fever syndromes
Reumatismo, 2004 Hereditary periodic fever syndromes are a group of systemic disorders characterized by recurrent attacks of systemic inflammation (autoinflammation) without infectious or autoimmune cause.
R. Scolozzi, A. Boccafogli, L. Vicentini
doaj +5 more sources
Anti-interleukin 6 receptor therapy for hyper-IgD syndrome. [PDF]
BMJ Case Rep, 2015 Hyper-IgD syndrome (HIDS) is a rare, severe hereditary autoinflammatory disease characterised by periodic fevers, elevated serum IgD levels and a wide range of symptoms. Although a few randomised controlled trials have been performed in this disorder, there are no straightforward treatment protocols and none of the potential therapies are registered ...
Musters A, Tak PP, Baeten DL, Tas SW.
europepmc +4 more sources
A Case of Hyper IgD and Periodic Fever Syndrome in Japan [PDF]
Clinical Medicine Insights: Case Reports, 2008 We report a four-year-old Japanese girl with hyper IgD and periodic fever syndrome. There is a first report of hyper IgD syndrome (HIDS) of which the genomic study was done in Japan.
Hisashi Kawashima M.D.,Ph.D. +7 more
doaj +3 more sources
Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report [PDF]
Journal of Medical Case ReportsBackground Hyperimmunoglobulin D syndrome is a rare autosomal recessive autoinflammatory syndrome caused by mevalonate kinase enzyme deficiency. It is characterized by recurrent febrile attacks beginning in the first year of life.
Elisamia Ngowi +10 more
doaj +2 more sources
Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome [PDF]
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Deuren, M. van +4 more
core +24 more sources