Varaico: Literature-Extracted Genetic Variants

Gene:IRAK4
Variant:p.L274delFs
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IRAK4

NM_016123.4:p.L274delFs

Associated Papers

Toll-Like Receptor Signaling in the Establishment and Function of the Immune System.

Aluri J et al.

Cells, 2021

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

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

Picard C et al.

Medicine, 2010

The role of Toll-like receptor signaling in human immunodeficiencies.

Suhir H et al.

Clinical Reviews in Allergy & Immunology, 2010

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

Inherited disorders of human Toll-like receptor signaling: immunological implications.

Ku CL et al.

Immunological Reviews, 2005

Pyogenic bacterial infections in humans with IRAK-4 deficiency.

Picard C et al.

Science (new York, N.y.), 2003

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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."