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Chediak-Higashi syndrome: pathognomonic feature [PDF]
The Lancet, 2013 A 2 -year-old girl presented to us with recurrent infections, hepato splenomegaly, and photophobia. On examination she had blond hair with a metallic sheen. The blood smear showed giant lysosomes in the white blood cells (fi gure) and we diagnosed Chediak-Higashi syndrome, a rare autosomal recessive disease (gene CHS1/LYST at 1q42.1-2). There have been
Antunes, Henedina +2 more
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Chediak-Higashi syndrome. [PDF]
Curr Opin Hematol, 2023 Purpose of review Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding diathesis, pyogenic infection, partial oculocutaneous albinism, and progressive neurodegeneration. Treatment is hematopoietic stem cell transplantation or bone marrow transplantation; however,
Talbert ML, Malicdan MCV, Introne WJ.
europepmc +5 more sources
Chediak-higashi syndrome [PDF]
Current Opinion in Hematology, 2008 Chediak Higashi Syndrome is a rare inherited autosomal recessive disorder of immune system. Susceptibility to infection due to phagocyte dysfunction ranges from recurrent skin infection to over whelming fatal systemic infection.
Hanif, Shaheena, Siddiqui, Emaduddin
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Chediak-Higashi Syndrome [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2013 Review on Chediak-Higashi Syndrome, with data on clinics, and the genes ...
Shen, W, Xu, X
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Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion. [PDF]
, 2022 Chediak-Higashi syndrome, caused by mutations in the Lysosome Trafficking Regulator (Lyst) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration, and defective immune responses, with enlargement of ...
Chang, Bo +8 more
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Chediak-Higashi Syndrome in Accelerated Phase. [PDF]
Indian J Hematol Blood Transfus, 2018 Ganesan N, Kumar PN.
europepmc +4 more sources
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase. [PDF]
Braz J Med Biol Res, 2017 Wu XL +5 more
europepmc +3 more sources
Technical Note: The Use of RNA-interference as a Tool to Find Proteins Involved in Melanosome Formation or Transport [PDF]
, 2009 Melanosomes are lysosome-related organelles that produce and transport the pigment melanin within melanocytes. Mutations in proteins required for melanosome transport and formation lead to a range of pigmentation defects, manifested at the cellular level
Daniela Rotin, Eva M. Amsen
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Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis [PDF]
, 2015 Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management.
Abboud, Miguel +25 more
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The effect of color type on early wound healing in farmed mink (Neovison vison) [PDF]
, 2017 Background Individual differences of mink, including color type, are speculated to affect the course of wound healing, thereby impacting wound assessment and management on the farms, as well as the assessment of wounds in forensic cases.
Aalbaek, B. +6 more
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