نتایج جستجو برای: chediak higashi syndrome

تعداد نتایج: 622464  

2000
Stéphanie Certain Franck Barrat Elodie Pastural Françoise Le Deist Jose Goyo-Rivas Nada Jabado Malika Benkerrou Reinhard Seger Etienne Vilmer Gilles Beullier Klaus Schwarz Alain Fischer

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder in which an immune deficiency occurs in association with pigmentation abnormalities. Most patients who do not undergo bone marrow transplantation die of a lymphoproliferative syndrome, though some patients with CHS have a relatively milder clinical course of the disease. The large size of the LYST gene, defective in CHS, has ...

Journal: :Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2015
Mazhar Ishaq Muhammad Khizar Niazi Muhammad Saim Khan Yasser Nadeem

Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Partial cutaneous albin...

Journal: :Blood 1978
S S Kaplan S S Boggs M A Nardi R E Basford J M Holland

Chediak-Higashi (CH) syndrome, a genetic disease affecting man and other animals, is partially characterized by defective platelets that lack serotonin and dense bodies and by impaired leukocyte function where chemotaxis, degranulation, and bacterial killing are decreased. The effects of normal platelets containing serotonin and of reagent serotonin on the subnormal microbicidal activity of CH ...

Journal: :Blood 1979
M Tulliez J P Vernant J Breton-Gorius M Imbert C Sultan

The formation and fine structure of giant granules in neutrophil promyelocytes of a patient with a variant of acute myelogenous leukemia were investigated by electron microscopy. The patient presented with large lymph nodes and disseminated intravascular coagulation (DIC). By light microscopy, numerous giant granules, resembling those of Chediak-Higashi syndrome (CHS), were present, but Auer bo...

Journal: :Blood 2000
S Certain F Barrat E Pastural F Le Deist J Goyo-Rivas N Jabado M Benkerrou R Seger E Vilmer G Beullier K Schwarz A Fischer G de Saint Basile

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder in which an immune deficiency occurs in association with pigmentation abnormalities. Most patients who do not undergo bone marrow transplantation die of a lymphoproliferative syndrome, though some patients with CHS have a relatively milder clinical course of the disease. The large size of the LYST gene, defective in CHS, has ...

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