Diagnosis of IRAK-4-deficiency by flow cytometric measurement of IκB-α degradation

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

(2023) Ana García-García et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity

(2020) Bertrand Boisson   HUMAN GENETICS

Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia

(2017) Glynis Frans et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

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

(2014) Glynis Frans et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

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