1q69: Difference between revisions
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==Disease== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/CD8A_HUMAN CD8A_HUMAN]] Defects in CD8A are a cause of familial CD8 deficiency (CD8 deficiency) [MIM:[http://omim.org/entry/608957 608957]]. Familial CD8 deficiency is a novel autosomal recessive immunologic defect characterized by absence of CD8+ cells, leading to recurrent bacterial infections. [[http://www.uniprot.org/uniprot/LCK_HUMAN LCK_HUMAN]] Note=A chromosomal aberration involving LCK is found in leukemias. Translocation t(1;7)(p34;q34) with TCRB. | [[http://www.uniprot.org/uniprot/CD8A_HUMAN CD8A_HUMAN]] Defects in CD8A are a cause of familial CD8 deficiency (CD8 deficiency) [MIM:[http://omim.org/entry/608957 608957]]. Familial CD8 deficiency is a novel autosomal recessive immunologic defect characterized by absence of CD8+ cells, leading to recurrent bacterial infections. [[http://www.uniprot.org/uniprot/LCK_HUMAN LCK_HUMAN]] Severe combined immunodeficiency due to LCK deficiency. Note=A chromosomal aberration involving LCK is found in leukemias. Translocation t(1;7)(p34;q34) with TCRB. | ||
==Function== | ==Function== | ||