title: A novel case of natural killer cell deficiency associated with Joubert syndrome.
abstract: Joubert syndrome (JS) is a rare, complex autosomal recessive inherited disorder mostly characterized by partial or complete agenesis of the cerebellar vermis. There is a wide clinical and genetic heterogeneity in the syndrome. The main clinical features of JS are hypotonia, ataxia, developmental delay, oculomotor apraxia, breathing abnormalities and peculiar neuroimaging findings. A lot of additional features have been reported. Here, we first reported a case of the syndrome with natural killer (NK) cell deficiency. NK cell deficiency in JS might be not an incidental phenomenon. NK cell deficiency might be associated with JS when there are additional features such as recurrent infections and tumors. NK cell deficiency may be part of the clinical spectrum of JS. Reduced cellular immunity in association with NK cell deficiency may be a feature in a subset of JS patients, especially if there is a history of recurrent infections, tumors and autoimmune disorders.
authors.affiliation: Department of Pediatrics, Affiliated Hospital of Guiyang Medical College, Guiyang, China. liuweiliang205@yahoo.com.cn
authors.forename: Wei-Liang
authors.initials: WL
authors.lastname: Liu
authors.forename: Fang
authors.initials: F
authors.lastname: Li
authors.forename: Zhi-Xu
authors.initials: ZX
authors.lastname: He
authors.forename: Hong-Yu
authors.initials: HY
authors.lastname: Jiang
authors.forename: Rong
authors.initials: R
authors.lastname: Ai
authors.forename: Jing
authors.initials: J
authors.lastname: Huang
authors.forename: Bo
authors.initials: B
authors.lastname: Li
mesh_terms: D000015:Abnormalities, Multiple; D002526:Cerebellar Diseases / Q000150:complications* / Q000276:immunology*; D002531:Cerebellum / Q000002:abnormalities; D005124:Eye Abnormalities / Q000150:complications* / Q000276:immunology*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000276:immunology* / Q000473:pathology; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000150:complications* / Q000276:immunology*; D007694:Killer Cells, Natural / Q000473:pathology*; D018655:Lymphocyte Count; D012160:Retina / Q000002:abnormalities* / Q000276:immunology