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Article

Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome.

Pediatrics - 1 Nov 2017

Rafiq Nadia K, Hussain Khalid, Brogan Paul A

Abstract excerpt

Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in SLC29A3, encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. Autoinflammation is increasingly recognized in these syndromes. We previously...

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Identifiers

PMID: 29079714
DOI: 10.1542/peds.2016-3148

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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