Four patients with early-onset, life-threatening microbial i...

created [InstanceEdit:5602721] Shamovsky, Veronica, 2014-06-24
dbId 5602674
displayName Four patients with early-onset, life-threatening microbial i...
literatureReference
modified [InstanceEdit:5609671] Shamovsky, Veronica, 2014-07-16
schemaClass Summation
text Four patients with early-onset, life-threatening microbial infections and failure to thrive were found to carry a homozygous duplication c.1292dupG in exon 13 of IKBKB gene that results in a lack of expression of IKBKB (Pannicke U et al. 2013). IKBKB deficiency is associated with severe combined immunodeficiency (SCID), a health condition characterized by low levels of immunoglobulins (hypogammaglobulinemia). Further phenotype assessment revealed that patients peripheral-blood B cells and T cells had normal counts but were almost exclusively of naive phenotype. Regulatory T cells and gamma delta T cells were absent.
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