title: [Auto-inflammatory disease with hyperimmunoglobulinemia D of late onset].
abstract: BACKGROUND
  The term "auto-inflammatory diseases" encompasses a group of disorders characterised by febrile episodes of sudden onset associated with joint, abdominal, lymph node and cutaneous signs, each presenting a genetic and/or laboratory specificity allowing their identification. Polyclonal elevation of serum IgD is highly suggestive of hyper-IgD syndrome, a disease with autosomal recessive transmission that usually begins before the age of one year.
  
  
  METHODS
  We report the case of a 46-year-old woman presenting a disease since the age of 30 years clinically very similar to hyper-IgD syndrome except for ocular and pulmonary involvement. However, tests revealed neither mevalonate kinase gene mutation nor elevation of urinary mevalonic acid. The near-monthly attacks were controlled with mycophenolate mofetil.
  
  
  CONCLUSIONS
  Three cases with identical clinical and laboratory profiles have been reported in the literature and diagnosed as late-onset hyper-IgD syndrome. Our case is the only one involving indirect screening for mutation of the mevalonate kinase gene, which proved negative. This finding rules out the diagnosis of classic hyper-IgD syndrome in our case and raises the possibility of auto-inflammatory disease with reactional hyper-IgD of a different cause, either acquired or secondary to an as yet unidentified mutation.
authors.affiliation: Service de Dermatologie, Hôpital d'Instructions des Armées Desgenettes, Lyon. pacombemale@wanadoo.fr
authors.forename: P
authors.initials: P
authors.lastname: Combemale
authors.forename: L
authors.initials: L
authors.lastname: Denis-Thely
authors.forename: Ph
authors.initials: P
authors.lastname: Crozes
authors.forename: J-L
authors.initials: JL
authors.lastname: Estival
authors.forename: M
authors.initials: M
authors.lastname: Dupin
authors.forename: B
authors.initials: B
authors.lastname: Chouvet
mesh_terms: D017668:Age of Onset; D005260:Female; D005334:Fever; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis*; D007072:Immunoglobulin D; D007249:Inflammation; D008875:Middle Aged; D012871:Skin Diseases; D013577:Syndrome
chemical_list: D007072:Immunoglobulin D