Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report.

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.

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Copyright © 2022 Collen, Salgado, Bao, Janssen, Weir, Goldsmith, Leichtner, Sabery Khavari, Gernez and Snapper.

Déclaration de conflit d'intérêts

SS declares the following interests: scientific advisory board participation for Pfizer, BMS, Lilly, IFM Therapeutics, Merck, and Pandion Inc; grant support from Pfizer, Novartis, and Takeda; consulting for Hoffman La Roche, Takeda, and Amgen. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.