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

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Publikace nespadá pod Lékařskou fakultu, ale pod Středoevropský technologický institut. Oficiální stránka publikace je na webu muni.cz.

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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

Rok publikování 2012
Druh Článek v odborném periodiku
Časopis / Zdroj Pediatrics
Fakulta / Pracoviště MU

Středoevropský technologický institut

Citace
www http://pediatrics.aappublications.org/content/129/2/e523
Doi http://dx.doi.org/10.1542/peds.2011-0870
Obor Pediatrie
Klíčová slova SH2D1A; ODZ1; SAP; teneurin; X-linked lymphoproliferative syndrome; aplastic anemia; lymphoma; dermatitis; psoriasis; dermatosclerosis; vesiculobullous skin disease
Přiložené soubory
Popis 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.

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