scholarly journals Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension

2006 ◽  
Vol 78 (4) ◽  
pp. 533-542 ◽  
Author(s):  
Miguel Del Campo ◽  
Anna Antonell ◽  
Luis F. Magano ◽  
Francisco J. Muñoz ◽  
Raquel Flores ◽  
...  
Keyword(s):  
Ncf1 Gene

Copy number variation of the NCF1 gene in patients of acne vulgaris

2021 ◽  
Vol 34 (1) ◽  
pp. 29
Author(s):  
LamiaaK Shehata ◽  
MohammedA. M. Shoeb ◽  
OlaA Bakry ◽  
ShaimaaE Soliman
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Acne Vulgaris ◽  
Number Variation ◽  
Ncf1 Gene

scholarly journals Enhanced autoimmunity, arthritis, and encephalomyelitis in mice with a reduced oxidative burst due to a mutation in the Ncf1 gene

2004 ◽  
Vol 101 (34) ◽  
pp. 12646-12651 ◽  
Author(s):  
M. Hultqvist ◽  
P. Olofsson ◽  
J. Holmberg ◽  
B. T. Backstrom ◽  
J. Tordsson ◽  
...  
Keyword(s):  
Oxidative Burst ◽  
Ncf1 Gene

scholarly journals Chronic granulomatous disease with an initial presentation of arthritis and oral ulcers

2016 ◽  
Vol 3 (1) ◽  
pp. 35-40
Author(s):  
Mohammad Alsalamah ◽  
Mariam Hanna ◽  
Julia Upton
Keyword(s):  
Chronic Granulomatous Disease ◽  
Autosomal Recessive ◽  
Oral Prednisone ◽  
Initial Assessment ◽  
Normocytic Anemia ◽  
Granulomatous Disease ◽  
Oral Ulcers ◽  
Work Up ◽  
Neutrophil Oxidative Burst ◽  
Ncf1 Gene

Chronic granulomatous disease (CGD) is an inherited defect of leukocyte phagocytic function leading to recurrent infections. Autoimmune manifestations are reported in up to 6% of patients with CGD. We report a case of CGD presenting with arthritis as the first manifestation of disease. A 12-year-old Pakistani male of consanguineous parents presented with migratory arthritis and painless oral ulcerations of 6 months duration that were minimally responsive to nonsteroidal anti-inflammatory treatment. Initial assessment demonstrated elevated inflammatory markers (ESR 62), weakly positive ANA (titer 1:40), negative anti-DsDNA, and negative RF. He presented to the emergency department with fevers and arthritis. Repeat work-up suggested early Macrophage Activation Syndrome: normocytic anemia (Hgb 95 g/L), thrombocytopenia (Plt 141 × 109/L), elevated LDH 1603, ferritin 1230 mcg/L, ESR 127, CRP 9.3, hypertiglycerdemia (3.2 mmoL/L) and mild transaminitis (ALT 63, AST 87), normal bone marrow (no hemophagocytosis), but mildly elevated Soluble CD 136 (1086 ng/mL) and Soluble IL-2 receptor (CD25) (1698 U/mL). He was treated with oral prednisone with symptom resolution. The arthritis relapsed after 1 month and the patient developed fever, productive cough, and pleuritic chest pain. Chest imaging revealed multiple nodular opacities and enlarged mediastinal lymph nodes. Aspergillus fumigatus complex was isolated from induced sputum prompting screening for primary immunodeficiency. Neutrophil oxidative burst function, as assessed by a dihydrorhodamine flow cytometry based assay, was low at 1.26 and 1.48 (normal range 32–300). Genetic analysis showed a previously described mutation in the NCF1 gene confirming the diagnosis of autosomal-recessive CGD. CGD can present with an exclusively rheumatologic presentation including arthritis and oral ulceration. Statement of Novelty: This case demonstrates that CGD can present with rheumatological symptoms prior to any infectious features.

scholarly journals NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity

2008 ◽  
Vol 7 (1) ◽  
Author(s):  
Bernhard Greve ◽  
Peter Hoffmann ◽  
Reinhard Vonthein ◽  
Jürgen Kun ◽  
Bertrand Lell ◽  
...  
Keyword(s):  
Parasitic Infection ◽  
Ncf1 Gene

Molecular Characterization of the Mouse p47-phox (Ncf1) Gene and Comparative Analysis of the Mouse p47-phox (Ncf1) Gene to the Human NCF1 Gene

2000 ◽  
Vol 3 (4) ◽  
pp. 224-230 ◽  
Author(s):  
Udaya DeSilva ◽  
Edward Miller ◽  
Agnes Görlach ◽  
Charles B. Foster ◽  
Eric D. Green ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Molecular Characterization ◽  
Ncf1 Gene

Su.13. NCF1 Gene and Pseudogene Pattern: Association with Parasitic Infection and Autoimmunity

2008 ◽  
Vol 127 ◽  
pp. S128
Author(s):  
Bernhard Greve ◽  
Peter Hoffmann ◽  
Reinhard Vonthein ◽  
Jürgen Kun ◽  
Bertrand Lell ◽  
...  
Keyword(s):  
Parasitic Infection ◽  
Ncf1 Gene

scholarly journals Essential role of nuclear factor-κB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes

Blood ◽  
2008 ◽  
Vol 112 (4) ◽  
pp. 1453-1460 ◽  
Author(s):  
Marcos Luengo-Blanco ◽  
Carolina Prando ◽  
Jacinta Bustamante ◽  
Walmir Cutrim Aragão-Filho ◽  
Paulo Vitor Soeiro Pereira ◽  
...  
Keyword(s):  
Gene Expression ◽  
Nadph Oxidase ◽  
Ectodermal Dysplasia ◽  
Nuclear Factor Κb ◽  
Nuclear Factor ◽  
U937 Cells ◽  
Cybb Gene ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Ncf1 Gene

AbstractThis work investigated the functional role of nuclear factor–κB (NF-κB) in respiratory burst activity and in expression of the human phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase genes CYBB, CYBA, NCF1, and NCF2. U937 cells with a stably transfected repressor of NF-κB (IκBα-S32A/S36A) demonstrated significantly lower superoxide release and lower CYBB and NCF1 gene expression compared with control U937 cells. We further tested Epstein-Barr virus (EBV)-transformed B cells from patients with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), an inherited disorder of NF-κB function. Superoxide release and CYBB gene expression by EDA-ID cells were significantly decreased compared with healthy cells and similar to cells from patients with X-linked chronic granulomatous disease (X910 CGD). NCF1 gene expression in EDA-ID S32I cells was decreased compared with healthy control cells and similar to that in autosomal recessive (A470) CGD cells. Gel shift assays demonstrated loss of recombinant human p50 binding to a NF-κB site 5′ to the CYBB gene in U937 cells treated with NF-κB inhibitors, repressor-transfected U937 cells, and EDA-ID patients' cells. Zymosan phagocytosis was not affected by transfection of U937 cells with the NF-κB repressor. These studies show that NF-κB is necessary for CYBB and NCF1 gene expression and activation of the phagocyte NADPH oxidase in this model system.

Tuberculosis in an autosomal recessive case of chronic granulomatous disease due to mutation of the NCF1 gene

2016 ◽  
Vol 44 (3) ◽  
pp. 276-279 ◽  
Author(s):  
T.A. Khan ◽  
O. Cabral-Marques ◽  
L.F. Schimke ◽  
E.B. de Oliveira ◽  
E.P. Amaral ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Autosomal Recessive ◽  
Granulomatous Disease ◽  
Ncf1 Gene
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