Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.Q231P
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CYBB

NM_000397.4:p.Q231P

Associated Papers

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Khavandegar A et al.

The Journal of Allergy and Clinical Immunology, 2024

Chronic Granulomatous Disease: a Comprehensive Review.

Yu HH et al.

Clinical Reviews in Allergy & Immunology, 2021

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

Case Report: BCG-Triggered Hemophagocytic Lymphohistiocytosis in an Infant With X-Linked Recessive Mendelian Susceptibility to Mycobacterial Disease Due to a Variant of Chronic Granulomatous Disease.

Al-Hammadi S et al.

Frontiers in Pediatrics, 2021

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Pöyhönen L et al.

Journal of Clinical Immunology, 2019

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

Monocyte/macrophage-specific NADPH oxidase contributes to antimicrobial host defense in X-CGD.

Okura Y et al.

Journal of Clinical Immunology, 2015

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Bustamante J et al.

Seminars in Immunology, 2014

ICON: the early diagnosis of congenital immunodeficiencies.

Routes J et al.

Journal of Clinical Immunology, 2014

Nontuberculous mycobacterial infections in children with inborn errors of the immune system.

Haverkamp MH et al.

The Journal of Infection, 2014

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.

Bustamante J et al.

Annals of the New York Academy of Sciences, 2011

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

Bustamante J et al.

Nature Immunology, 2011

[Chronic granulomatous disease (CGD)].

Shibata A

Ryoikibetsu Shokogun Shirizu, 1998

[Chronic granulomatous disease (CGD)].

Takikawa K et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1977

[Mendelian susceptibility to mycobacterial infections and defect in macrophages respiratory burst].

Bustamante J

Medecine Sciences : M/s, 0

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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."