title: Tendonitis in variant hyperimmunoglobulinaemia D and periodic fever syndrome--a rare disease with a new symptom.
abstract: Hyperimmunoglobulinaemia D syndrome (HIDS) is defined as recurrent fever, generalised lymphadenitis, abdominal pain, arthritis and raised polyclonal serum IgD >100 IU/ml. The cause is a mutation in the mevalonate kinase gene. Other periodic fever syndromes are known. We report a new patient and describe orbital tendonitis as a hitherto unreported symptom
  
  
  CONCLUSIONS
  Without any underlying cause, the tendonitis must be seen as new symptom of variant hyperimmunoglobulinaemia D syndrome. We speculate that the inflammation of the Tenon spatium is similar to the process of inflammation of the connective tissue in the joint in hyperimmunoglobulinaemia D syndrome where deposits of C3 and IgM are present. Variant hyperimmunoglobulinaemia D syndrome can be present in one family.
authors.affiliation: University Children's Hospital, Soldmannstrasse 15, 17487, Greifswald, Germany. sven.armbrust@web.de
authors.forename: Sven
authors.initials: S
authors.lastname: Armbrust
authors.forename: Joost P H
authors.initials: JP
authors.lastname: Drenth
authors.forename: Carmen
authors.initials: C
authors.lastname: Schröder
authors.forename: Ester
authors.initials: E
authors.lastname: Domning
authors.forename: Ernestine
authors.initials: E
authors.lastname: Poeschl
authors.forename: Siegfried K W
authors.initials: SK
authors.lastname: Wiersbitzky
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005858:Germany; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis / Q000235:genetics; D007072:Immunoglobulin D; D009916:Orbital Diseases / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D052256:Tendinopathy / Q000175:diagnosis / Q000235:genetics
chemical_list: D007072:Immunoglobulin D; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase