McLeod Syndrome: A Previously Unreported XK Genotype
نویسندگان
چکیده
منابع مشابه
Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome.
BACKGROUND McLeod syndrome (MLS) is hematologically defined by the absence of the red blood cell (RBC) antigen Kx on the transmembrane RBC protein, XK, representing a highly specific diagnostic marker. Direct molecular assessment of XK therefore represents a desirable diagnostic tool. Whereas pathogenic point mutations may be simply identified, partial and complete deletions of XK on Xp21.1, ev...
متن کاملMcLeod neuroacanthocytosis: genotype and phenotype.
McLeod syndrome is caused by mutations of XK, an X-chromosomal gene of unknown function. Originally defined as a peculiar Kell blood group variant, the disease affects multiple organs, including the nervous system, but is certainly underdiagnosed. We analyzed the mutations and clinical findings of 22 affected men, aged 27 to 72 years. Fifteen different XK mutations were found, nine of which wer...
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The X-linked McLeod syndrome is defined by absent Kx red blood cell antigen and weak expression of Kell antigens, and this constellation may be accidentally detected in routine screening of apparently healthy blood donors. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurological disorder resem...
متن کاملGene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.
In a patient suffering from X-linked chronic granulomatous disease (X-CGD)--a disorder of phagocytesuperoxide generation--and McLeod syndrome, characterized by the absence of the red cell Kell antigen, we identified a deletion of the entire X-CGD gene by means of DNA hybridization with a cDNA probe. Our findings suggest that the X-CGD and McLeod loci are physically close in the p21 region of th...
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Camila Cristina Kukita, André Luiz Nunes Gobatto, Alice Zoghbi Lobo, Leandro Utino Taniguchi I Hospital das Clı́nicas da Faculdade de Medicina da Universidade de São Paulo, Discipline of Emergency Medicine, São Paulo/SP, Brazil. II Hospital das Clı́nicas da Faculdade de Medicina da Universidade de São Paulo, Department of Dermatology, São Paulo/SP, Brazil. III Hospital Sı́rio Libanês, Intensive Ca...
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ژورنال
عنوان ژورنال: American Journal of Clinical Pathology
سال: 2013
ISSN: 0002-9173,1943-7722
DOI: 10.1093/ajcp/140.suppl1.063