Mouse models and strain-dependency of Chédiak-Higashi syndrome-associated neurologic dysfunction
نویسندگان
چکیده
منابع مشابه
Chédiak-Higashi syndrome: presentation of seven cases.
CONTEXT Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE To describe clinical and laboratory findings from CHS patients. DESIGN Case report. SETTING The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care ...
متن کاملFour cases of Chédiak-Higashi syndrome
DOI: 10.5581/1516-8484.20110084 Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder, with fewer than 500 cases published over the last 20 years.(1) The clinical features of this syndrome include partial oculocutaneous albinism, photosensitivity, grayish hair and skin,(1,2) severe recurrent bacterial infections, bleeding diathesis and neurological manifestations (central and pe...
متن کاملchédiak–higashi syndrome
chédiak-higashi syndrome is a rare autosomal recessive congenital immunodeficiency mainly characterized by a condition called oculo-cutaneous albinism. the affected subjects have light-colored hair, vision problems, blood clotting (coagulation) abnormalities and in adulthood varying neurologic disorders. recurrent infections, particularly viral infection with other disorders in childhood are us...
متن کاملOptic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.
BACKGROUND The classic form of Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder of lysosomal trafficking with childhood onset caused by mutations in ITALIC! LYST, is typified ophthalmologically by ocular albinism with vision loss attributed to foveal hypoplasia or nystagmus. Optic nerve involvement and ophthalmological manifestations of the late-onset neurodegenerative form of CH...
متن کاملLysosomal Vesicles, Giant Granules, and Erythrophagocytosis in Chédiak-Higashi Syndrome
A 3-year-old boy presented with recurrent infections. Physical examination revealed hepatosplenomegaly, bilateral cervical lymphadenopathy, silvery gray hair, and bilateral nystagmus. Giant granules in lymphocytes, monocytes, and granulocytes were seen on blood smear (Figure A). Bone marrow aspirate exhibited erythrophagocytosis and numerous giant granules of predominantly myeloid lineage (Figu...
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ژورنال
عنوان ژورنال: Scientific Reports
سال: 2019
ISSN: 2045-2322
DOI: 10.1038/s41598-019-42159-0