IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency

(2015) Manfred Fliegauf et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome

(2015) Glynis Frans et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100

(2014) C. E. Lee et al.   BLOOD

Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

(2014) Thierry Brue et al.   BMC Medical Genetics

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

(2014) Siobhan O. Burns et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Immunodeficiency Associated with a Nonsense Mutation of IKBKB

(2014) Christian Nielsen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

(2013) Karin Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

(2013) Ulrich Pannicke et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Toll-like receptors in health and disease in the brain: mechanisms and therapeutic potential

(2011) Mark L. Hanke et al.   CLINICAL SCIENCE

Toll-like Receptors and Their Crosstalk with Other Innate Receptors in Infection and Immunity

(2011) Taro Kawai et al.   IMMUNITY

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

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

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

Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred

(2010) Daniel H. Conway et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2010) Capucine Picard et al.   MEDICINE

The Role of Toll-Like Receptor Signaling in Human Immunodeficiencies

(2009) Hanna Suhir et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

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

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