Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.L469P
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CIITA

NM_000246.4:p.L469P

Associated Papers

Major Histocompatibility Complex Class II Deficiency Beyond Infancy.

Kattra AB et al.

Case Reports in Immunology, 2025

Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report.

Zhang Y et al.

Asian Pacific Journal of Allergy and Immunology, 2024

CATERPILLERs, pyrin and hereditary immunological disorders.

Ting JP et al.

Nature Reviews. Immunology, 2006

Importance of class II transactivator leucine-rich repeats for dominant-negative function and nucleo-cytoplasmic transport.

Camacho-Carvajal MM et al.

International Immunology, 2004

Structural localization of disease-associated sequence variations in the NACHT and LRR domains of PYPAF1 and NOD2.

Albrecht M et al.

Febs Letters, 2003

Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.

Prod'homme T et al.

Immunogenetics, 2003

N-terminal destruction signals lead to rapid degradation of the major histocompatibility complex class II transactivator CIITA.

Schnappauf F et al.

European Journal of Immunology, 2003

Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.

Dziembowska M et al.

Immunogenetics, 2002

Mutation in the class II trans-activator leading to a mild immunodeficiency.

Wiszniewski W et al.

Journal of Immunology (baltimore, Md. : 1950), 2001

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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."