Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.L277_D278Splc
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IRAK4

NM_016123.4:p.L277_D278Splc

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

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

Gobin K et al.

Frontiers in Pediatrics, 2017

Deficiency of interleukin-1 receptor-associated kinase 4 presenting as fatal Pseudomonas aeruginosa bacteremia in two siblings.

Stergiopoulou T et al.

The Pediatric Infectious Disease Journal, 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

TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway.

Hoarau C et al.

Journal of Immunology (baltimore, Md. : 1950), 2007

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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."