Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency
K Felgentreff, R Perez-Becker, C Speckmann… - Clinical …, 2011 - Elsevier
Hypomorphic mutations in genes associated with severe combined immunodeficiency
(SCID) or Omenn syndrome can also cause milder immunodeficiencies. We report 10 new
patients with such “atypical” SCID and summarize 63 patients from the literature. The patient
groups with TlowBlow (n= 28), TlowB+ (n= 16) and ADA (n= 29) SCID variants had similar
infection profiles but differed in the frequency of immune dysregulation, which was observed
predominantly in patients with recombination defects. Most immunological parameters were …
(SCID) or Omenn syndrome can also cause milder immunodeficiencies. We report 10 new
patients with such “atypical” SCID and summarize 63 patients from the literature. The patient
groups with TlowBlow (n= 28), TlowB+ (n= 16) and ADA (n= 29) SCID variants had similar
infection profiles but differed in the frequency of immune dysregulation, which was observed
predominantly in patients with recombination defects. Most immunological parameters were …