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- Title
c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis.
- Authors
Celiksoy, Mehmet Halil; Borte, Stephan; İkincioğulları, Aydan; Bilgici, Meltem Ceyhan; Karagöz, Filiz; Kalaycı, Ayhan Gazi; Yıldıran, Alişan
- Abstract
The article presents a case study of an eight-year-old male patient with two-year history of knee swelling and pain. The patient was found negative for surface antigen of the hepatitis B virus (HBsAg), anti-HBs, anti-HCV (hepatitis-C), and Cytomegalovirus by polymerase chain reaction. Hyperimmunoglobulin M syndrome (HIGM). The patient was diagnosed with Hyperimmunoglobulin M syndrome (HIGM) syndrome.
- Subjects
ARTHRITIS diagnosis; BILE duct diseases; IMMUNOLOGICAL deficiency syndrome complications; LIVER disease diagnosis; ABDOMINAL radiography; CHOLANGIOGRAPHY; BIOPSY; BLOOD testing; EDEMA; ENZYMES; IMMUNOGLOBULINS; LIVER; MAGNETIC resonance imaging; GENETIC mutation; PHYSICAL diagnosis; KNEE pain; CHILDREN; DIAGNOSIS
- Publication
Turkish Journal of Hematology, 2014, Vol 31, Issue 4, p420
- ISSN
1300-7777
- Publication type
Case Study
- DOI
10.4274/tjh.2014.0081