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

Ester Mejstříková, Aleš Janda, Ondřej Hrušák, Hana Bučková, Markéta Vlčková, Miroslava Hančárová, Tomáš Freiberger, Barbora Ravčuková, Karel Veselý, Lenka Fajkusová, Lenka Kopečková, David Sumerauer, Edita Kabíčková, Anna Šedivá, Jan Starý,...

. 2012 ; 129 (2) : e523-8. [pub] 20120123

Jazyk angličtina Země Spojené státy americké

Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc12022537

Grantová podpora
NS10398 MZ0 CEP - Centrální evidence projektů
NS9997 MZ0 CEP - Centrální evidence projektů
NS10480 MZ0 CEP - Centrální evidence projektů

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 deletion of the SH2D1A gene. SH2D1A deletion was also identified in our patient, which offered a possible explanation for his skin symptoms. Subsequent analysis showed that the deletion in both cousins was identical and involved the whole SH2D1A gene and a part of the adjacent ODZ1 gene. High phenotypic variability of XLP-1 observed in this family prompted us to analyze the genotype-phenotype correlation of 2 different-sized deletions involving SH2D1A and ODZ1 in 5 patients from 2 families, and we report the clinical and laboratory data on these individuals. Our findings illustrate the wide clinical variability of XLP-1, both inter- and intrafamilial, which may complicate the diagnosis of this condition. The comparison of phenotypes of our patients argues against a strong involvement of the ODZ1 gene in the skin disorder and other symptoms observed in our index patient. His hitherto not described severe skin condition extends the phenotypic range of XLP-1.

Citace poskytuje Crossref.org

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