Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency

The Genetic Theory of Infectious Diseases: A Brief History and Selected Illustrations

(2013) Jean-Laurent Casanova et al.   Annual Review of Genomics and Human Genetics

Molecular Analysis of Mycobacteria Isolated in Mexican Patients with Different Immunodeficiencies in a Tertiary Care Hospital

(2013) Nancy Cortés-Torres et al.   ARCHIVES OF MEDICAL RESEARCH

Partial IFN- R2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

(2013) M. Moncada-Velez et al.   BLOOD

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

(2013) M. A. Spinner et al.   BLOOD

IL-12Rβ1 Deficiency and Disseminated Mycobacterium tilburgii Disease

(2013) Kinda Schepers et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Nontuberculous mycobacterial infections in children with inborn errors of the immune system

(2013) Margje H. Haverkamp et al.   JOURNAL OF INFECTION

Inherited IL-12p40 Deficiency

(2013) Carolina Prando et al.   MEDICINE

The human gene connectome as a map of short cuts for morbid allele discovery

(2013) Y. Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mycobacterium simiae pulmonary infection unmasked during immune reconstitution in an HIV patient

(2012) María Asunción Vitoria et al.   DIAGNOSTIC MICROBIOLOGY AND INFECTIOUS DISEASE

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

(2012) Xiao-Fei Kong et al.   HUMAN MOLECULAR GENETICS

Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency

(2012) Sara Sebnem Kilic et al.   JOURNAL OF INFECTION

Mycobacterial Disease and Impaired IFN-  Immunity in Humans with Inherited ISG15 Deficiency

(2012) D. Bogunovic et al.   SCIENCE

Lethal Tuberculosis in a Previously Healthy Adult with IL-12 Receptor Deficiency

(2011) Payam Tabarsi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

(2011) Jacinta Bustamante et al.   NATURE IMMUNOLOGY

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

(2011) Stéphanie Boisson-Dupuis et al.   PLoS One

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

(2010) Alexandre Alcaïs et al.   Annals of the New York Academy of Sciences

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Multiple cutaneous squamous cell carcinomas in a patient with interferon   receptor 2 (IFN R2) deficiency

(2010) H. Toyoda et al.   JOURNAL OF MEDICAL GENETICS

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

Disseminated disease caused by Mycobacterium simiae in AIDS patients: a report of three cases

(2009) R. Narang et al.   CLINICAL MICROBIOLOGY AND INFECTION

Fatal disseminated Mycobacterium simiae infection in a non-HIV patient

(2009) Maher M. Balkis et al.   INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

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