Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child

Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome that results from abnormal nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function. This defect leads to recurrent catalase-positive bacterial and fungal infections as well as associated granuloma formatio...

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Published inCase reports in immunology Vol. 2013; no. 2013; pp. 1 - 5
Main Authors Moreau, J. F., Ozolek, John A., Lin, P. Ling, Green, Todd D., Cassidy, Elaine A., Venkat, Veena L., Buchert, Andrew R.
Format Journal Article
LanguageEnglish
Published Cairo, Egypt Hindawi Puplishing Corporation 01.01.2013
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Abstract Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome that results from abnormal nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function. This defect leads to recurrent catalase-positive bacterial and fungal infections as well as associated granuloma formation. We review the case of a 2-year-old boy who presented with ascites and fever of an unknown origin as manifestations of CGD. Cultures were negative for infection throughout his course, and CGD was suspected after identification of granulomas on peritoneal biopsy. Genetic testing revealed a novel mutation in the CYBB gene underlying his condition. This paper highlights the importance of considering CGD in the differential diagnosis of fever of unknown origin and ascites in children.
AbstractList Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome that results from abnormal nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function. This defect leads to recurrent catalase-positive bacterial and fungal infections as well as associated granuloma formation. We review the case of a 2-year-old boy who presented with ascites and fever of an unknown origin as manifestations of CGD. Cultures were negative for infection throughout his course, and CGD was suspected after identification of granulomas on peritoneal biopsy. Genetic testing revealed a novel mutation in the CYBB gene underlying his condition. This paper highlights the importance of considering CGD in the differential diagnosis of fever of unknown origin and ascites in children.
Author Green, Todd D.
Cassidy, Elaine A.
Ozolek, John A.
Venkat, Veena L.
Buchert, Andrew R.
Lin, P. Ling
Moreau, J. F.
AuthorAffiliation 4 Division of Pulmonary Medicine, Allergy and Immunology, Children's Hospital of Pittsburgh of UPMC, One Children's Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USA
6 Division of Gastroenterology, Children's Hospital of Pittsburgh of UPMC, One Children's Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USA
3 Division of Infectious Disease, Children's Hospital of Pittsburgh of UPMC, One Children's Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USA
5 Division of Rheumatology, Children's Hospital of Pittsburgh of UPMC, One Children's Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USA
7 The Paul C. Gaffney Diagnostic Referral Service, Children's Hospital of Pittsburgh of UPMC, One Children's Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USA
2 Division of Pathology, Children's Hospital of Pittsburgh of UPMC, One Children's Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USA
1 School of Medicine, University of Pittsburgh, Pittsburgh, PA 15261,
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Snippet Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome that results from abnormal nicotinamide adenine dinucleotide phosphate...
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Title Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child
URI https://search.emarefa.net/detail/BIM-508826
https://dx.doi.org/10.1155/2013/927897
https://www.ncbi.nlm.nih.gov/pubmed/25379308
https://search.proquest.com/docview/1622064030
https://pubmed.ncbi.nlm.nih.gov/PMC4207586
https://doaj.org/article/ca4c2f3d07fc4209b426e246aedf8d7a
Volume 2013
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