Publications:

Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.

Journal Of Clinical Immunology

Publication Date: 2021-04

Variant appearance in text: CGD: 550C>T

PubMed Link: 33822308

Variant Present in the following documents:

• Main text
• 10875_2021_Article_1001.pdf

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A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review.

Molecular Genetics & Genomic Medicine

AlKhater, Suzan A SA; Deswarte, Caroline C; Casanova, Jean-Laurent JL; Bustamante, Jacinta J

Publication Date: 2020-06

Variant appearance in text: CGD: 550C>T

PubMed Link: 32281309

Variant Present in the following documents:

• Main text
• MGG3-8-e1237.pdf

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Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Blood Cells, Molecules & Diseases

Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Bustamante, Jacinta J; Kannengiesser, Caroline C; de Boer, Martin M; van Leeuwen, Karin K; Köker, M Yavuz MY; Wolach, Baruch B; Roesler, Joachim J; Malech, Harry L HL; Holland, Steven M SM; Gallin, John I JI; Stasia, Marie-José MJ

Publication Date: 2010-04-15

Variant appearance in text: CGD: 550C>T

PubMed Link: 20167518

Variant Present in the following documents:

• Main text

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