Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?

Journal of Inherited Metabolic Disease

Volumn 24, Issue 3, 2001, Pages 413-414

  Tsimaratos, M ^a   Kone Paut, I ^b   Divry, P ^c   Philip, N ^d   Chabrol, B ^d  

^a Hopital d'Enfants Groupe Hospitalier   (France)

^b HÔPITAL NORD   (France)

^c HÔPITAL DEBROUSSE   (France)

^d TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; COLCHICINE; IMMUNOGLOBULIN D; MEVALONIC ACID; STEROID;

ACIDURIA; ADULT; ARTHRALGIA; ARTICLE; CASE REPORT; CHILD DEVELOPMENT; CLINICAL FEATURE; DISEASE ASSOCIATION; EDEMA; FEMALE; FEVER; HUMAN; HYPERIMMUNOGLOBULINEMIA; IMMUNOGLOBULIN PRODUCTION; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LYMPHADENOPATHY; MALE; PALLIATIVE THERAPY; POSTOPERATIVE PERIOD; RASH; SIBLING; SPLENOMEGALY; URINARY EXCRETION;

C-REACTIVE PROTEIN; CRANIOFACIAL ABNORMALITIES; FEMALE; FEVER; HUMANS; IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; INFANT; LYMPHATIC DISEASES; MALE; MEVALONIC ACID; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SYNDROME;

EID: 0034912125     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1010577207726     Document Type: Article

References (6)

1. International Hyper-IgD Study Group: Mutations in the gene encoding mevalonate kinase cause hyperimmunoglobulinaemia D and periodic fever syndrome
2. Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry
3. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
4. Mutations in MVK, encoding mevalonate kinase, cause hyper-IgD and periodic fever syndrome
5. Mevalonic aciduria in 3 siblings: A new recognizable metabolic encephalopathy
6. Crescentic glomerulonephritis in hyper-IgD syndrome