IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database

Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency

(2017) Sabah Boudjemaa et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients

(2016) Inge C. de Vor et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum

(2015) Li Gao et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency

(2015) Bianca Tesi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Host susceptibility to non-tuberculous mycobacterial infections

(2015) Un-In Wu et al.   LANCET INFECTIOUS DISEASES

Pineal Germinoma in a Child with Interferon-γ Receptor 1 Deficiency. Case Report and Literature Review

(2014) L. Taramasso et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

(2014) Jacinta Bustamante et al.   SEMINARS IN IMMUNOLOGY

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

(2013) O. Hirata et al.   HAEMATOLOGICA

A novel mutation in IFN-γ receptor 1 presenting as multisystem Mycobacterium intracellulare infection

(2013) David M. Rose et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

B-Cell Lymphoma in a Patient with Complete Interferon Gamma Receptor 1 Deficiency

(2013) Hannelore I. Bax et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Identifying the Initiating Events of Anti-Listeria Responses Using Mice with Conditional Loss of IFN-  Receptor Subunit 1 (IFNGR1)

(2013) S. H. Lee et al.   JOURNAL OF IMMUNOLOGY

Mycobacterium szulgai Chronic Multifocal Osteomyelitis in an Adolescent With Inherited STAT1 Deficiency

(2013) Oded Shamriz et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease

(2012) Miyuki Tsumura et al.   HUMAN MUTATION

A novel internalization motif regulates human IFN-γR1 endocytosis

(2012) Judith Yancoski et al.   JOURNAL OF LEUKOCYTE BIOLOGY

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE IN EGYPTIAN CHILDREN

(2012) Nermeen Galal et al.   Mediterranean Journal of Hematology and Infectious Diseases

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

(2011) Ithaisa Sologuren et al.   HUMAN MOLECULAR GENETICS

Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity

(2011) Jérémy Manry et al.   HUMAN MUTATION

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency

(2010) Carolina Prando et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

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

Genetic deficiencies of innate immune signalling in human infectious disease

(2009) Esther van de Vosse et al.   LANCET INFECTIOUS DISEASES

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

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

IL-23 modulates CD56+/CD3- NK Cell and CD56+/CD3+ NK-like T Cell function differentially from IL-12

(2008) D. van de Wetering et al.   INTERNATIONAL IMMUNOLOGY