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Review Open access Aug 2026

Unmet needs in SLC29A3-related disorders.

SLC29A3-related disorders are autosomal recessive conditions characterized by histiocytic infiltration, autoinflammatory and autoimmune manifestations, and variable degrees of immune deficiency. SLC29A3-related disorders are rare and complex, with a broad spectrum of manifestations, even among individuals carrying the...

M. Jouret, Christina G. Tise, Anne-Laure Mathieu et al. · 0 citations

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