c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis

References (4)

1. Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood 2005;105:1881-1890
2. Davies EG, Thrasher AJ. Update on the hyper immunoglobulin M syndromes. Br J Haematol 2010;149:167-180
3. Montella S, Maglione M, Giardino G, Di Giorgio A, Palamaro L, Mirra V, Ursini MV, Salerno M, Pignata C, Caffarelli C, Santamaria F. Hyper IgM syndrome presenting as chronic suppurative lung disease. Ital J Pediatr 2012;38:45
4. Farrell RJ, Kelly CP. Sclerosing cholangitis and recurrent pyogenic cholangitis. In: Feldman M, Friedman LS, Sleisenger MH (eds). Sleisenger & Fordtran’s Gastrointestinal and Liver Disease: Pathophysiology, Diagnosis, Management, Vol 2, 7th ed. Philadelphia, Saunders, 2002.