A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections

Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease

(2015) Eva P. Szymanski et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

GATA2 deficiency

(2015) Amy P. Hsu et al.   Current Opinion in Allergy and Clinical Immunology

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

(2015) Stéphanie Boisson-Dupuis et al.   IMMUNOLOGICAL REVIEWS

Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey

(2015) Alison R. Huppmann et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

(2015) S. Okada et al.   SCIENCE

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

(2014) Xianqin Zhang et al.   NATURE

Human genetics of tuberculosis: a long and winding road

(2014) L. Abel et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Consequences of genomic diversity in Mycobacterium tuberculosis

(2014) Mireia Coscolla et al.   SEMINARS IN IMMUNOLOGY

Host genetic studies in adult pulmonary tuberculosis

(2014) Christian G. Meyer et al.   SEMINARS IN IMMUNOLOGY

Abnormal Nasal Nitric Oxide Production, Ciliary Beat Frequency, and Toll-like Receptor Response in Pulmonary Nontuberculous Mycobacterial Disease Epithelium

(2013) Cedar J. Fowler et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

The Immune Response in Tuberculosis

(2013) Anne O'Garra et al.   Annual Review of Immunology

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

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

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56bright subset

(2013) E. M. Mace et al.   BLOOD

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

(2013) M. A. Spinner et al.   BLOOD

Molecular analysis for patients with IL-12 receptor β1 deficiency

(2013) N. Ramirez-Alejo et al.   CLINICAL GENETICS

MonoMAC Syndrome in a Patient With a GATA2 Mutation: Case Report and Review of the Literature

(2013) J. F. Camargo et al.   CLINICAL INFECTIOUS DISEASES

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

(2013) O. Hirata et al.   HAEMATOLOGICA

Interferon Alpha Treatment of Patients with Impaired Interferon Gamma Signaling

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

Isolation of Nontuberculous Mycobacteria (NTM) from Household Water and Shower Aerosols in Patients with Pulmonary Disease Caused by NTM

(2013) R. Thomson et al.   JOURNAL OF CLINICAL MICROBIOLOGY

Inherited IL-12p40 Deficiency

(2013) Carolina Prando et al.   MEDICINE

Ecology of Nontuberculous Mycobacteria—Where Do Human Infections Come from?

(2013) Joseph Falkinham   SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE

Patients with Nontuberculous Mycobacterial Lung Disease Exhibit Unique Body and Immune Phenotypes

(2012) Marinka Kartalija et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

(2012) Jacinta Bustamante et al.   Annals of the New York Academy of Sciences

Anti-IFN-  autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02 and the reactivation of latent varicella-zoster virus infection

(2012) C.-Y. Chi et al.   BLOOD

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia

(2012) Harriet Holme et al.   BRITISH JOURNAL OF HAEMATOLOGY

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

(2012) Stephanie Boisson-Dupuis et al.   CURRENT OPINION IN IMMUNOLOGY

GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia

(2012) Hiroyuki Ishida et al.   EUROPEAN JOURNAL OF PEDIATRICS

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

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

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

(2012) Miyuki Tsumura et al.   HUMAN MUTATION

Patients with inhibitory and neutralizing auto-antibodies to interferon-γ resemble the sporadic adult-onset phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) lacking Bacille Calmette–Guerin (BCG)-induced diseases

(2012) Wen-I. Lee et al.   IMMUNOBIOLOGY

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

A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease

(2012) Elizabeth P. Sampaio et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

Adult-Onset Immunodeficiency in Thailand and Taiwan

(2012) Sarah K. Browne et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2012) D. Bogunovic et al.   SCIENCE

An update on the hyper-IgE syndromes

(2012) Patrick FK Yong et al.   ARTHRITIS RESEARCH & THERAPY

Pulmonary disease caused by nontuberculous mycobacteria

(2012) Curtis H Weiss et al.   Expert Review of Respiratory Medicine

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

(2011) J. Kazenwadel et al.   BLOOD

Severe impairment of IFN-  and IFN-  responses in cells of a patient with a novel STAT1 splicing mutation

(2011) D. Vairo et al.   BLOOD

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

(2011) A. P. Hsu et al.   BLOOD

Environmental Risk Factors for Pulmonary Mycobacterium avium-intracellulare Complex Disease

(2011) Koichi Maekawa et al.   CHEST

Primary immunodeficiencies—The role of the laboratory

(2011) Volker Wahn   CLINICAL BIOCHEMISTRY

Interleukin-12 Receptor  1 Deficiency Predisposing to Disseminated Coccidioidomycosis

(2011) D. C. Vinh et al.   CLINICAL INFECTIOUS DISEASES

Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications

(2011) K. R. Calvo et al.   HAEMATOLOGICA

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

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

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) Venetia Bigley et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Frank L. van de Veerdonk 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

Interferon Regulatory Factor 8 Regulates Pathways for Antigen Presentation in Myeloid Cells and during Tuberculosis

(2011) Jean-François Marquis et al.   PLoS Genetics

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

(2010) X.-F. Kong et al.   BLOOD

Novel STAT1 Alleles in a Patient with Impaired Resistance to Mycobacteria

(2010) Ines Ackerl Kristensen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Anticytokine autoantibodies in infectious diseases: pathogenesis and mechanisms

(2010) Sarah K Browne et al.   LANCET INFECTIOUS DISEASES

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

THE CLINICAL SPECTRUM OF PATIENTS WITH DEFICIENCY OF SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION-1

(2010) Diana Averbuch et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Genetic susceptibility in tuberculosis

(2010) Jae-Joon YIM et al.   RESPIROLOGY

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

(2009) D. C. Vinh et al.   BLOOD

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

Pulmonary nontuberculous mycobacterial infections in hyper-IgE syndrome

(2009) Elizabeth Melia et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Atypical presentation of IL-12 receptor β1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents

(2009) David A. Gruenberg et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A partial form of recessive STAT1 deficiency in humans

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

Pulmonary Nontuberculous Mycobacterial Disease

(2008) Richard D. Kim et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

(2008) Bryn H. Salt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

(2008) Saleh Al-Muhsen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY