NK cell defects in X-linked pigmentary reticulate disorder
نویسندگان
چکیده
منابع مشابه
Oral manifestations in a boy with X-linked reticulate pigmentary disorder
Case report A 3-year-old boy was seen at the Department of Maxillo-Facial Surgery and Paediatric Dentistry of the Children’s Hospital of Trieste. The multi-systemic features of XLPDR included a number of oro-dental manifestations such as misshapen teeth, scissor bite, swallowing difficulties, agenesis of the 4 permanent second premolars, taurodontism, early resorption of deciduous roots, and pr...
متن کاملX-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature.
X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparen...
متن کاملClinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders
Reticulated pigmentation is a unique pigmentary change caused by a heterogeneous group of hereditary and acquired disorders. This pigmentation is characterized by a mottled appearance, with lesions that vary in size and pigmentary content. This review discusses the hereditary group of the reticulated pigmentation disorders, such as dyschromatosis symmetrica hereditaria, dyschromatosis universal...
متن کاملT lymphocytes and NK cells in X-linked agammaglobulinemia.
Seven boys with diagnosis of X-linked agammaglobulinemia on regular substitution of immunoglobulins were included into study. The patients showed episodes of infections but the clinical course was mild with good response to antibiotics. All patients developed, with time, the chronic sinusitis with proliferation of mucous membrane, two patients showed bronchiectases. The number of T lymphocytes,...
متن کاملRole for glycogen synthase kinase-3 in NK cell cytotoxicity and X-linked lymphoproliferative disease.
NK cells from individuals with X-linked lymphoproliferative (XLP) disease exhibit functional defects when stimulated through the NK receptor, 2B4 (CD244). These defects are likely a consequence of aberrant intracellular signaling initiated by mutations of the adaptor molecule SLAM-associated protein. In this report, we show that NK cells from individuals with XLP but not healthy individuals fai...
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ژورنال
عنوان ژورنال: JCI Insight
سال: 2019
ISSN: 2379-3708
DOI: 10.1172/jci.insight.125688