Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.Y48*
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IRAK4

NM_016123.4:p.Y48*

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

Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Lu H et al.

Critical Care (london, England), 2019

30683156 (PubMed )
Supplement: 13054_2019_2313_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

Staphylococcal pericarditis, and liver and paratracheal abscesses as presentations in two new cases of interleukin-1 receptor associated kinase 4 deficiency.

Comeau JL et al.

The Pediatric Infectious Disease Journal, 2008

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

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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."