Addressing diagnostic challenges in primary immunodeficiencies: Laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses

TLR3 immunity to infection in mice and humans

(2013) Shen-Ying Zhang et al.   CURRENT OPINION IN IMMUNOLOGY

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

(2013) Johann Greil et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

(2013) Polina Stepensky et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy

(2013) Lena F. Schimke et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside

(2013) Ahmed Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Even in Pneumococcal Sepsis CD62L Shedding on Granulocytes Proves to be a Reliable Functional Test for the Diagnosis of Interleukin-1 Receptor–associated Kinase-4 Deficiency

(2013) Oliver Andres et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies

(2012) Janet Chou et al.   Current Opinion in Allergy and Clinical Immunology

TLR4 polymorphisms and disease susceptibility

(2012) Mamoona Noreen et al.   INFLAMMATION RESEARCH

HeterozygousTBK1mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

(2012) Melina Herman et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Genetic variation in Toll-like receptors and disease susceptibility

(2012) Mihai G Netea et al.   NATURE IMMUNOLOGY

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

Breast feeding and early life immunomodulation

(2012) Laura San Feliciano et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Inducible MicroRNA-223 Down-Regulation Promotes TLR-Triggered IL-6 and IL-1β Production in Macrophages by Targeting STAT3

(2012) Qingyun Chen et al.   PLoS One

Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century

(2011) Peter D. Arkwright et al.   Annals of the New York Academy of Sciences

Human TLRs and IL-1Rs in Host Defense: Natural Insights from Evolutionary, Epidemiological, and Clinical Genetics

(2011) Jean-Laurent Casanova et al.   Annual Review of Immunology

Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or I B  Deficiency

(2011) C. Picard et al.   CLINICAL MICROBIOLOGY REVIEWS

A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome

(2011) Hidenori Ohnishi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

(2011) Vanessa Sancho-Shimizu et al.   JOURNAL OF CLINICAL INVESTIGATION

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

(2011) Yiqi Guo et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Breastfeeding modulates neonatal innate immune responses: a prospective birth cohort study

(2011) M. E. Belderbos et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Toll-like receptor 3 upregulation by type I interferon in healthy and scleroderma dermal fibroblasts

(2011) Sandeep K Agarwal et al.   ARTHRITIS RESEARCH & THERAPY

Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations

(2011) Michael D. Keller et al.   Frontiers in Immunology

Genetic variations in toll-like receptor pathway genes influence asthma and atopy

(2010) R. Tesse et al.   ALLERGY

Non-canonical NF-κB signaling pathway

(2010) Shao-Cong Sun   CELL RESEARCH

Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis

(2010) Rebeca Pérez de Diego et al.   IMMUNITY

Human TLRs 10 and 1 Share Common Mechanisms of Innate Immune Sensing but Not Signaling

(2010) Y. Guan et al.   JOURNAL OF IMMUNOLOGY

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

(2010) Capucine Picard et al.   MEDICINE

Ontogeny of Toll-Like Receptor Mediated Cytokine Responses of Human Blood Mononuclear Cells

(2010) Nathan P. Corbett et al.   PLoS One

Immunological and Inflammatory Functions of the Interleukin-1 Family

(2009) Charles A. Dinarello   Annual Review of Immunology

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

Multiplex Analysis of Toll-Like Receptor-Stimulated Neonatal Cytokine Response

(2009) Justin E. Caron et al.   Neonatology

Toll-Like Receptor 3 Signaling on Macrophages Is Required for Survival Following Coxsackievirus B4 Infection

(2009) Martin J. Richer et al.   PLoS One

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

(2008) Eduardo Lopez-Granados et al.   HUMAN MUTATION

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

Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

(2008) H. von Bernuth et al.   SCIENCE