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Article

Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.

Pediatrics - 1 Feb 2012

Mejstríková Ester, Janda Ales, Hrusák Ondrej, Bucková Hana, Vlcková Markéta, Hancárová Miroslava, Freiberger Tomás, Ravcuková Barbora, Vesely Karel, Fajkusová Lenka, Kopecková Lenka, Sumerauer David, Kabícková Edita, Sedivá Anna, Stary Jan, Sedlácek Zdenek

Abstract excerpt

SH2D1A gene defects are the cause of X-linked lymphoproliferative disorder (XLP-1), a rare condition characterized by severe immune dysregulation. We present a patient lacking the typical symptoms of XLP-1, but experiencing a severe unusual skin condition encompassing features of dermatosclerosis and vesiculobullous skin disease. A maternal cousin of the patient was diagnosed with XLP-1 and found to carry a...

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Identifiers

PMID: 22271700
DOI: 10.1542/peds.2011-0870

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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