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Published on: May 6, 2013
Two siblings with type 1 autoimmune pancreatitis
Takayuki Watanabe1, Masahiro Maruyama, Tetsuya Ito
1Department of Gastroenterology, Shinshu University School of Medicine, Japan.
Internal Medicine (Tokyo, Japan)
|April 16, 2013
Summary
Type 1 autoimmune pancreatitis (AIP) may involve multiple genetic factors, not solely the previously identified HLA-DRB1(*)04:05-DQB1(*)04:01 haplotype. This finding broadens our understanding of AIP
Area of Science:
- Immunogenetics
- Gastroenterology
- Rheumatology
Background:
- Type 1 autoimmune pancreatitis (AIP) is typically associated with elevated serum IgG4 levels.
- The HLA-DRB1(*)04:05-DQB1(*)04:01 haplotype is considered a significant genetic factor in Type 1 AIP.
Observation:
- Two male siblings presented with Type 1 AIP, exhibiting pancreatic swelling and duct strictures.
- The younger sibling also had IgG4-related sialadenitis and retroperitoneal fibrosis.
Findings:
- Despite Type 1 AIP diagnosis, the siblings had normal or only slightly elevated serum IgG4.
- Crucially, the siblings lacked the previously associated HLA-DRB1(*)04:05-DQB1(*)04:01 haplotype.
Implications:
- These findings suggest that Type 1 AIP pathogenesis involves multiple immunogenetic factors beyond the known haplotype.
- Further research is needed to identify additional genetic contributors to Type 1 AIP.
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