Associated Papers
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Ochoa S et al.
The Journal of Allergy and Clinical Immunology, 2025
Identification of a heterozygous pathogenic variant in IRAK4 in an adult patient with pneumococcal sepsis, monoclonal gammopathy of uncertain significance, and idiopathic systemic capillary leak syndrome.
Galant-Swafford J et al.
The Journal of Allergy and Clinical Immunology. Global, 2023
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
Nishimura S et al.
Journal of Clinical Immunology, 2021
33083971 (PubMed )
Supplement: 10875_2020_885_MOESM1_ESM.docx
A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4.
Alsina L et al.
Nature Immunology, 2014
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Picard C et al.
Medicine, 2010
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.
de Beaucoudrey L et al.
The Journal of Experimental Medicine, 2008
18591412 (PubMed )
Supplement: jem.20080321_5.pdf
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.
Ku CL et al.
The Journal of Experimental Medicine, 2007
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.
Ku CL et al.
Journal of Medical Genetics, 2007
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