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

IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens

(2014) P. J. Maglione et al.   BLOOD

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

(2014) Jennifer L. Stoddard et al.   Frontiers in Immunology

Human T follicular helper (Tfh) cells and disease

(2013) Cindy S Ma et al.   IMMUNOLOGY AND CELL BIOLOGY

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

(2013) Isaac J. Nijman et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients

(2012) S. Weller et al.   BLOOD

Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome

(2012) Marie-Olivia Chandesris et al.   MEDICINE

Reference values for B cell subpopulations from infancy to adulthood

(2010) H. Morbach et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

(2010) Cristina Woellner 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

Polymorphisms in interleukin-1 receptor-associated kinase 4 are associated with total serum IgE

(2009) M. A. Tewfik et al.   ALLERGY

STAT3 is required for IL-21-induced secretion of IgE from human naive B cells

(2008) D. T. Avery et al.   BLOOD

Mutations inSTAT3andIL12RB1impair the development of human IL-17–producing T cells

(2008) Ludovic de Beaucoudrey et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

(2008) H. von Bernuth et al.   SCIENCE