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

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

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

Diagnostic and therapeutic challenges in a child with complete Interferon-γ Receptor 1 deficiency

(2015) Peter Olbrich et al.   PEDIATRIC BLOOD & CANCER

Impact of interferon-  on hematopoiesis

(2014) A. M. de Bruin et al.   BLOOD

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

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

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

Intact IFN-γR1 Expression and Function Distinguishes Langerhans Cell Histiocytosis From Mendelian Susceptibility to Mycobacterial Disease

(2013) Willemijn T. Quispel et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Interferon Alpha Treatment of Patients with Impaired Interferon Gamma Signaling

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

Interleukin-22 binding protein (IL-22BP) is constitutively expressed by a subset of conventional dendritic cells and is strongly induced by retinoic acid

(2013) J CJ Martin et al.   Mucosal Immunology

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency

(2012) Neslihan Edeer Karaca et al.   Immunotherapy

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE IN EGYPTIAN CHILDREN

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

"Mycobacterium tilburgii" Infection in Two Immunocompromised Children: Importance of Molecular Tools in Culture-Negative Mycobacterial Disease Diagnosis

(2011) N. G. Hartwig et al.   JOURNAL OF CLINICAL MICROBIOLOGY

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

Disseminated Mycobacterium scrofulaceum infection in a child with interferon-γ receptor 1 deficiency

(2009) Maria Grazia Marazzi et al.   INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

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

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

(2008) Martin Rottman et al.   PLOS MEDICINE