Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.E402*
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IRAK4

NM_016123.4:p.E402*

Associated Papers

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

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Paciolla M et al.

Genes and Immunity, 2015

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

Picard C et al.

Medicine, 2010

Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.

Krause JC et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2009

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

IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.

Ku CL et al.

Journal of Medical Genetics, 2007

Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives.

Cardenes M et al.

The Journal of Pediatrics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."