HYPER-IgD SYNDROME

Question 1

What is  HYPER-IgD SYNDROME?

Accepted Answer

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

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperimmunglobulinämie D mit Rückfallfieber

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 260920

Question 4

Which enzymes are involved?

Accepted Answer

mevalonate kinase

Disease	HYPER-IgD SYNDROME
Synonym	PERIODIC FEVER, DUTCH TYPE; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; HIDS
OMIM	260920 OMIM = Online Mendelian Inheritance of Men
Orphanet	343
Protein (UniProt)	mevalonate kinase
ExPASy	2.7.1.36
Gene locus	12q24.11
ICD	E85.0
Summary	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
Laboratory findings	Coenzyme Q10, Ubiquinone normal/dec (plasma) Cysteinyl leukotrienes (LTC4) inc (urine) Cysteinyl leukotrienes (LTE4) inc (plasma) Immunglobulin IgD normal/inc (serum) Mevalonate kinase dec (lymphocytes) Mevalonate kinase dec (fibroblasts) Mevalonic acid inc (urine) Tumor necrosis factor alpha (TNF alpha) inc (plasma)
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