Article

Adult presentation of histiocytosis-lymphadenopathy plus syndrome associated with hypogammaglobulinemia due to a recurrent homozygous pathogenic variant in SLC29A3: a case report

2026-02-11

Abstract excerpt

<title>Abstract</title> <p>Background SLC29A3-related disorders encompass a spectrum of rare autosomal recessive conditions characterized by multisystem involvement, including immunodeficiency, lymphoproliferation, cutaneous findings, endocrine dysfunction, and growth failure. Delayed recognition is common because phenotypes are heterogeneous and overlap with more frequent disorders. Case presentation : A 33-ye...

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Literature Corpus work: 7b9f858f-20a1-57d1-88ce-1fa7fd7c7c69
DOI: 10.21203/rs.3.rs-8685129/v1

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