Visit Metagene.de!
Summary
HYPER-IgD SYNDROME
PERIODIC FEVER, DUTCH TYPE HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME HIDS
260920
OMIM = Online Medalian Inheritance of Men
343
12q24.11
  • anakinra
  • coenzyme Q10
  • etanercept
  • Simvastatin
rare (180 cases)
autosomal recessive
periodic fever syndromes (autoinflammatory disorders): - familial Mediterranean fever (FMF) - hyperimmunoglobulinemia D periodic fever syndrome (HIDS) - tumor necrosis factor receptor-associated periodic syndrome (TRAPS) - PFAPA syndrome (increased procalcitonin) - systemic juvenile idiopathic arthritis (sJIA), non-hereditary
symptoms
amyloidosis
arthralgia
arthritis
blindness, visual loss, visual impairment
diarrhea
fever
headache (severe, recurrent or occipital, migraine)
night blindness
onset, infancy
pain, abdominal
recurrent or intermittent skin defect
retinitis pigmentosa
skin rash, eczematous or seborrhoic
splenomegaly (large spleen)
vomiting
laboratory finding
Cysteinyl leukotrienes (LTC4)0.000.00 increasedurineno data
Mevalonic acid5.00150.00 mmol/mol creatinineurineno data
Mevalonate kinase1.206.70 % activitylymphocytes
Mevalonate kinase0.803.60980.001950.00% activityfibroblasts
Immunglobulin IgD normal-increasedserum
Tumor necrosis factor alpha (TNF alpha) increasedplasma
Ubiquinone-50 normal-decreasedplasma
Cysteinyl leukotrienes (LTE4) increasedplasma
Literature
Yamamoto Tet al.Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type IIMetabolism52111501-15042003
Poll-The BTet al.Mevalonic aciduria in 12 unrelated patients with hyperimmunglobulinaemia D and periodic fever syndromeJ Inherit Metab Dis230363-3662000
Wolf NIet al.Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutationsEur J Pediatr1624279-2802003
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Thony BHeizmann CW, Mattei MGChromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4-alpha-carbinolamine dehydratase maps to 10q22Genomics192365-3681994
Smith IDisorders of tetrahydrobiopterin metabolismin Fernandes J, Saudubray J-M, Tada K (eds): Inborm metabolism diseases. Diagnosis and treatment. Berlin, Springer Verlag00183-1991
Bouchard Let al.Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patientsPediatr Res493326-3312001
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Drenth JPet al.Identification of the gene for hyper-IgD syndrome: a model of modern genetics Article in DutchNed Tijdschr Geneeskd1440782-7852000
Wanders RJAet alL-2-hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patientsJ Inherit Metab Dis200725-7261997
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Aledo Ret al.Genetic basis of mitochondrial HMG-CoA synthase deficiencyHum Genet109119-232001
Papetti L,et al.Severe early onset ethylmalonic encephalopathy with West syndromeMetab Brain Dis3061537-15452015
van den Berghe GDisorders of purine and pyrimidine metabolismin Fernandes J, Saudubray JM, Tada K (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00455-4741990