A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
نویسندگان
چکیده
منابع مشابه
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous...
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Chediak-Higashi syndrome (CHS), an autosomal recessive defect of polymorphonuclear leucocytic function is characterized by increased susceptibility to pyogenic infections, oculocutaneous albinism, neutropenia and presence of abnormal granules in leucocytes. This rare disorder has been described in approximately 80 cases from world over including three reports from India since its first descript...
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Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder, characterized by silver hair, recurrent infections, partial oculo-cutaneous albinism, mild coagulation defect and progressive neuropathy. The characteristic feature of CHS is the presence of huge lysosomes and cytoplasmic inclusions within different body cells like the white blood cells. The disease has an early onset but us...
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ژورنال
عنوان ژورنال: Brazilian Journal of Medical and Biological Research
سال: 2017
ISSN: 1414-431X,0100-879X
DOI: 10.1590/1414-431x20165727