Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases

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Authors	MEJSTRIKOVA Ester JANDA Aleš HRUSAK Ondřej BUČKOVÁ Hana VLCKOVA Markéta HANCAROVA Miroslava FREIBERGER Tomáš RAVČUKOVÁ Barbora VESELÝ Karel FAJKUSOVÁ Lenka KOPEČKOVÁ Lenka SUMERAUER David KABICKOVA Edita SEDIVA Anna STARY Jan SEDLACEK Zdeněk
Year of publication	2012
Type	Article in Periodical
Magazine / Source	Pediatrics
MU Faculty or unit	Central European Institute of Technology
Citation
Web	http://pediatrics.aappublications.org/content/129/2/e523
Doi	http://dx.doi.org/10.1542/peds.2011-0870
Field	Paediatry
Keywords	SH2D1A; ODZ1; SAP; teneurin; X-linked lymphoproliferative syndrome; aplastic anemia; lymphoma; dermatitis; psoriasis; dermatosclerosis; vesiculobullous skin disease
Attached files	2012mejstrikova.pdf
Description	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.