A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection.
Chronic granulomatous disease (CGD) is typically characterized by recurrent infections, granulomatous disease, and an increased susceptibility to autoimmune disease. We report a novel homozygous mutation in NCF2 that permits residual expression of an alternatively spliced variant in a patient with duodenitis and systemic lupus erythematosus (SLE), followed by a late-onset, single pulmonary infection in the setting of immunosuppressive medications. This report highlights the importance of considering CGD in patients who present initially exclusively with autoimmune disease.
Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Janet
J
Chou
Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Joyce T
JT
Hsu
Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Wayne
W
Bainter
Department of Microbiology, Faculty of Medicine, Kuwait University, Kuwait.
Raja'a
R
Al-Attiyah
Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait.
Waleed
W
Al-Herz
Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address: raif.geha@childrens.harvard.edu.
Raif S
RS
Geha
D001327:Autoimmune Diseases / Q000235:genetics*; D002648:Child; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008171:Lung Diseases / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D019255:NADPH Oxidases / Q000235:genetics*
D019255:NADPH Oxidases; C527764:NCF2 protein, human
Chronic granulomatous disease; NCF2; Systemic lupus erythematosus; Whole exome sequencing