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

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

(2010) X.-F. Kong et al.   BLOOD

Oesophageal squamous cell carcinoma in a young adult with IL-12R 1 deficiency

(2010) M. Cardenes et al.   JOURNAL OF MEDICAL GENETICS

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

Demographic history of Canary Islands male gene-pool: replacement of native lineages by European

(2009) Rosa Fregel et al.   BMC EVOLUTIONARY BIOLOGY

A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

(2009) Xiao-Fei Kong et al.   HUMAN MOLECULAR GENETICS

Temporal evolution of the ABO allele frequencies in the Canary Islands: the impact of the European colonization

(2009) Rosa Fregel et al.   IMMUNOGENETICS

A partial form of recessive STAT1 deficiency in humans

(2009) Ariane Chapgier et al.   JOURNAL OF CLINICAL INVESTIGATION

Functional analysis of naturally occurring amino acid substitutions in human IFN-γR1

(2009) Diederik van de Wetering et al.   MOLECULAR IMMUNOLOGY

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

(2008) Guillaume Vogt et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations inSTAT3andIL12RB1impair the development of human IL-17–producing T cells

(2008) Ludovic de Beaucoudrey et al.   JOURNAL OF EXPERIMENTAL MEDICINE

IFN-γ Mediates the Rejection of Haematopoietic Stem Cells in IFN-γR1-Deficient Hosts

(2008) Martin Rottman et al.   PLOS MEDICINE