CCD (Central core disease of muscle): One of the conditions that produces ‘floppy baby’ syndrome. CCD causes hypotonia (floppiness) in the newborn baby, slowly progressive muscle weakness, and muscle cramps after exercise. Muscle biopsy shows a key diagnostic finding (absent mitochondria in the center of many type I muscle fibers). CCD is inherited as a dominant trait. The CCD gene is on chromosome 19 (and involves ryanodine receptor-1).
- CCD (cleidocranial dysostosis)
CCD (cleidocranial dysostosis): A genetic (inherited) disorder of bone development characterized by: Absent or incompletely formed collar bones (the “cleido-” part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or nearly so. Typical cranial and facial abnormalities with square skull, late closure of the sutures of […]
CCR5: A chemokine receptor found on monocytes and lymphocytes that serves as the coreceptor for HIV. HIV strains that use this coreceptor are referred to as R5 viruses. Polymorphisms in the coding and non-coding regions of the CCR5 gene influence the natural history of HIV infection. CCR5 (or CCCR5) stands for the CC chemokine receptor […]
CD10: A cell surface enzyme with neutral metalloendopeptidase activity. CD10 is also known as CALLA (common acute lymphocytic leukemia antigen). It serves as a marker for the common form of ALL (acute lymphocytic leukemia) as well as for Burkitt lymphoma and follicular germinal center lymphoma. CD10/CALLA is normally present on the surface of early lymphoid […]
CD4: A large glycoprotein molecule found on the surface of T lymphocytes that serves as the receptor for HIV. The CD4 gene is on chromosome 12 in region 12pter-p12. CD4 is also called T4. See also: Absolute CD4 count.
CD40: A receptor molecule on the cell surface of all mature B cells (B lymphocytes), most B-cell malignancies, and monocytes, dendritic cells (in the nervous system), endothelial cells (within blood vessels), and epithelial cells. CD40 is a member of the tumor necrosis factor superfamily. Together with CD40 ligand, the molecule that binds to it, CD40 […]