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

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

(2011) D. Vairo et al.   BLOOD

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

(2011) M. Hubeau et al.   BLOOD

Interleukin-12 Receptor  1 Deficiency Predisposing to Disseminated Coccidioidomycosis

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

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

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

(2010) X.-F. Kong et al.   BLOOD

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

(2010) Dirk Roos et al.   BLOOD CELLS MOLECULES AND DISEASES

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID)

(2010) Catherine M. L. Roberts et al.   EUROPEAN JOURNAL OF PEDIATRICS

Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of the NEMO gene

(2010) Jana L. Mooster et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

Clinical Disease Caused by Klebsiella in 2 Unrelated Patients With Interleukin 12 Receptor  1 Deficiency

(2010) S. Pedraza et al.   PEDIATRICS

Primary B Cell Immunodeficiencies: Comparisons and Contrasts

(2009) Mary Ellen Conley et al.   Annual Review of Immunology

Refractory Disseminated Coccidioidomycosis and Mycobacteriosis in Interferon‐γ Receptor 1 Deficiency

(2009) Donald C. Vinh et al.   CLINICAL INFECTIOUS DISEASES

Chronic Granulomatous Disease

(2009) Steven M. Holland   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Novel genetic etiologies of severe congenital neutropenia

(2009) Kaan Boztug et al.   CURRENT OPINION IN IMMUNOLOGY

Primary immunodeficiencies: increasing market share

(2009) Luigi D Notarangelo et al.   CURRENT OPINION IN IMMUNOLOGY

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

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-α/β, IFN-γ, and IFN-λ in host defense

(2009) Shen-Ying Zhang et al.   IMMUNOLOGICAL REVIEWS

A partial form of recessive STAT1 deficiency in humans

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

Human genetics of infectious diseases: between proof of principle and paradigm

(2009) Alexandre Alcaïs et al.   JOURNAL OF CLINICAL INVESTIGATION

Structural Basis for Recognition of Diubiquitins by NEMO

(2009) Yu-Chih Lo et al.   MOLECULAR CELL

Susceptibility to Mycobacterial Infections in Children With X-Linked Chronic Granulomatous Disease

(2009) Pamela P. W. Lee et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

X-Linked Ectodermal Dysplasia With Immunodeficiency Caused by NEMO Mutation

(2008) Anthony J. Mancini et al.   ARCHIVES OF DERMATOLOGY

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

(2008) Jacinta Bustamante et al.   CURRENT OPINION IN IMMUNOLOGY

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

Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

(2008) Eric P. Hanson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Genetically determined susceptibility to mycobacterial infection

(2008) S Y Patel et al.   JOURNAL OF CLINICAL PATHOLOGY

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

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