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List of works by Douglas B Kuhns

(p47)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis

scientific article published on 01 January 2019

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

scientific article

An AAVS1-targeted minigene platform for correction of iPSCs from all five types of chronic granulomatous disease

scientific article published on 7 October 2014

Assessment of atherosclerosis in chronic granulomatous disease

scientific article

B-cell activating factor (BAFF) is elevated in chronic granulomatous disease

scientific article published on 22 May 2013

Brief Report: Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) ⬇️

scientific article published on December 12, 2011

CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease.

scientific article published on January 2017

Common severe infections in chronic granulomatous disease

scientific article

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

scientific article

Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy.

scientific article published on 3 November 2015

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

scientific article published on 01 July 2020

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

scientific article

Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis

scientific article

Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency.

scientific article

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

scientific article published on 01 June 2019

Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19

scientific article published in 2022

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

scientific article

Residual NADPH oxidase and survival in chronic granulomatous disease ⬇️

scientific article

STAT3 mutations in the hyper-IgE syndrome

scientific article

Serologic reactivity to the emerging pathogen Granulibacter bethesdensis

scientific article

Tryptophan/kynurenine metabolism in human leukocytes is independent of superoxide and is fully maintained in chronic granulomatous disease

scientific article

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