PubMed · 4111947
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
J H Goldstein. 1972. Keratoconjunctivitis sicca.. https://doi.org/10.1080/00325481.1972.11698137
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
Chronic granulomatous disease (CGD) is an inherited disorder of phagocyte function in which defective superoxide production results in deficient microbicidal activity. CGD patients suffer from recurrent, life-threatening infections, and nearly half develop chronic gastrointestinal (GI) complications (colitis, gastric outlet obstruction, or perirectal abscess) and/or autoimmune/rheumatologic disorders (AIDs). To identify genetic modifiers of disease severity, we studied a cohort of 129 CGD patients, in whom seven candidate genes (myeloperoxidase [MPO], mannose binding lectin [MBL], Fcgamma receptors IIa, IIIa, IIIb, TNF-alpha, and IL-1 receptor antagonist), each containing a physiologically relevant polymorphism predicted to influence the host inflammatory response, were selected for analysis. Genotypes of MPO (P = 0.003) and FcgammaRIIIb (P = 0.007) were strongly associated with an increased risk for GI complications, while an FcgammaRIIa (P = 0.05) genotype was suggestive for an association. Patients with all three associated genotypes had the highest risk for GI complications (P < 0.0001). The risk of AIDs was strongly associated with variant alleles of MBL (P = 0.01) and weakly associated with an FcgammaRIIa genotype (P = 0.04). Patients with variant forms of both MBL and FcgammaRIIa had the highest risk of developing an AID (P = 0.003).
Explore the source record for details and available documents.
We present a case report of Cogan's syndrome and a review of the literature. Cogan's syndrome, described in 1945, consists of nonsyphilitic interstitial keratitis accompanied by rapidly progressive bilateral hearing loss, tinnitus, and vertigo. 40% develop bilateral complete deafness and 70% show signs of systemic disease mostly in the form of cardiovascular symptoms. The mortality rate of 10% is mainly due to vasculitis. The disease is caused by an autoimmune response. One male patient had a typical interstitial keratitis and bilateral dramatically progressive deafness combined with failure of the vestibule. Corticosteroids and immunosuppressants are the treatment of choice. The importance of being aware of audiotory-vestibular dysfunction occurring in patients with ocular inflammation and the role of early immunotherapy in preventing deafness has to be emphasised.