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

A partial form of recessive STAT1 deficiency in humans

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

SUCCESSFUL HEMATOPOIETIC STEM CELL TRANSPLANTATION FROM AN UNRELATED DONOR IN A CHILD WITH INTERFERON GAMMA RECEPTOR DEFICIENCY

(2009) Petra Moilanen et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Infections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon-  Receptor Deficiency

(2008) H. Glosli et al.   CLINICAL INFECTIOUS DISEASES

Chinese Patients with Defective IL-12/23-Interferon-γ Circuit in Taiwan: Partial Dominant Interferon-γ Receptor 1 Mutation Presenting as Cutaneous Granuloma and IL-12 Receptor β1 Mutation as Pneumatocele

(2008) Wen-I Lee et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

(2008) Guillaume Vogt 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