Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Front Immunol ; 13: 894648, 2022.
Article in English | MEDLINE | ID: mdl-35935971

ABSTRACT

Primary immunodeficiency may present with treatment-refractory enteropathy. We present two patients with celiac/celiac-like disease diagnosed in early childhood and refractory to the gluten-free diet. One patient had features of multi-system autoimmunity, whereas the other had celiac-like disease as an isolated clinical finding. Both patients underwent genetic testing given disease refractoriness and were ultimately diagnosed with cytotoxic T lymphocyte antigen 4 (CTLA4) haploinsufficiency. They are both now in complete clinical and endoscopic remission on abatacept. CTLA4 haploinsufficiency has incomplete penetrance and significant phenotypic heterogeneity but should be considered in the differential diagnosis of refractory celiac/celiac-like disease, as treatment implications are significant.


Subject(s)
Celiac Disease , Autoimmunity , CTLA-4 Antigen/genetics , Celiac Disease/diagnosis , Celiac Disease/genetics , Child, Preschool , Diet, Gluten-Free , Haploinsufficiency , Humans
SELECTION OF CITATIONS
SEARCH DETAIL
...