Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

@article{Sologuren2011PartialRI,
  title={Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.},
  author={Ithaisa Sologuren and St{\'e}phanie Boisson-Dupuis and Jos{\'e} J. Pestano and Quentin Benoit Vincent and Leandro Fern{\'a}ndez-P{\'e}rez and Ariane L. A. Chapgier and Mar{\'i}a C{\'a}rdenes and Jacqueline E. Feinberg and M Isabel Garc{\'i}a-Laorden and Capucine Picard and Esther Alonso Santiago and Xiaofei Kong and Lucile Janni{\`e}re and Elena Colino and Estefan{\'i}a Herrera-Ramos and Adela Franc{\'e}s and Carmen Pe{\~n}aloza Navarrete and St{\'e}phane Blanche and Em{\'i}lia Faria and Pawel Remiszewski and Ana Costa Cordeiro and Alexandra M. Class Freeman and Steven W. Holland and Katia Abarca and M{\'o}nica Valer{\'o}n-Lemaur and Jos{\'e} Gonçalo-Marques and Lu{\'i}sa Silveira and Jos{\'e} Manuel Garc{\'i}a-Castellano and Jos{\'e} A. Caminero and Jos{\'e}-Lu{\'i}s P{\'e}rez-Arellano and Jacinta Bustamante and Laurent Abel and J. Hugo P{\'e}rez Casanova and Carlos Rodr{\'i}guez-Gallego},
  journal={Human molecular genetics},
  year={2011},
  volume={20 8},
  pages={
          1509-23
        }
}
We report a series of 14 patients from 11 kindreds with recessive partial (RP)-interferon (IFN)-γR1 deficiency. The I87T mutation was found in nine homozygous patients from Chile, Portugal and Poland, and the V63G mutation was found in five homozygous patients from the Canary Islands. Founder effects accounted for the recurrence of both mutations. The most recent common ancestors of the patients with the I87T and V63G mutations probably lived 1600 (875-2950) and 500 (200-1275) years ago… CONTINUE READING

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Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1

  • D. van de Wetering, R. A. de Paus, J. T. van Dissel, E. van de Vosse
  • Mol. Immunol.,
  • 2010
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