MEJSTRIKOVA, Ester, Aleš JANDA, Ondřej HRUSAK, Hana BUČKOVÁ, Markéta VLCKOVA, Miroslava HANCAROVA, Tomáš FREIBERGER, Barbora RAVČUKOVÁ, Karel VESELÝ, Lenka FAJKUSOVÁ, Lenka KOPEČKOVÁ, David SUMERAUER, Edita KABICKOVA, Anna SEDIVA, Jan STARY a Zdeněk SEDLACEK. Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases. Pediatrics. AMER ACAD PEDIATRICS, roč. 129, č. 2, s. "E523"-"E528", 6 s. ISSN 0031-4005. doi:10.1542/peds.2011-0870. 2012. |
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@article{987340, author = {Mejstrikova, Ester and Janda, Aleš and Hrusak, Ondřej and Bučková, Hana and Vlckova, Markéta and Hancarova, Miroslava and Freiberger, Tomáš and Ravčuková, Barbora and Veselý, Karel and Fajkusová, Lenka and Kopečková, Lenka and Sumerauer, David and Kabickova, Edita and Sediva, Anna and Stary, Jan and Sedlacek, Zdeněk}, article_number = {2}, doi = {http://dx.doi.org/10.1542/peds.2011-0870}, keywords = {SH2D1A; ODZ1; SAP; teneurin; X-linked lymphoproliferative syndrome; aplastic anemia; lymphoma; dermatitis; psoriasis; dermatosclerosis; vesiculobullous skin disease}, language = {eng}, issn = {0031-4005}, journal = {Pediatrics}, title = {Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases}, url = {http://pediatrics.aappublications.org/content/129/2/e523}, volume = {129}, year = {2012} }
TY - JOUR ID - 987340 AU - 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 PY - 2012 TI - Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases JF - Pediatrics VL - 129 IS - 2 SP - "E523"-"E528" EP - "E523"-"E528" PB - AMER ACAD PEDIATRICS SN - 00314005 KW - SH2D1A KW - ODZ1 KW - SAP KW - teneurin KW - X-linked lymphoproliferative syndrome KW - aplastic anemia KW - lymphoma KW - dermatitis KW - psoriasis KW - dermatosclerosis KW - vesiculobullous skin disease UR - http://pediatrics.aappublications.org/content/129/2/e523 L2 - http://pediatrics.aappublications.org/content/129/2/e523 N2 - 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. ER -
MEJSTRIKOVA, Ester, Aleš JANDA, Ondřej HRUSAK, Hana BUČKOVÁ, Markéta VLCKOVA, Miroslava HANCAROVA, Tomáš FREIBERGER, Barbora RAVČUKOVÁ, Karel VESELÝ, Lenka FAJKUSOVÁ, Lenka KOPEČKOVÁ, David SUMERAUER, Edita KABICKOVA, Anna SEDIVA, Jan STARY a Zdeněk SEDLACEK. Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases. \textit{Pediatrics}. AMER ACAD PEDIATRICS, roč.~129, č.~2, s.~''E523''-''E528'', 6 s. ISSN~0031-4005. doi:10.1542/peds.2011-0870. 2012.
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