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 and Zdeněk SEDLACEK. Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases. Pediatrics. AMER ACAD PEDIATRICS, 2012, vol. 129, No 2, p. "E523"-"E528", 6 pp. ISSN 0031-4005. doi:10.1542/peds.2011-0870.
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Basic information
Original name Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases
Authors MEJSTRIKOVA, Ester (203 Czech Republic), Aleš JANDA (203 Czech Republic), Ondřej HRUSAK (203 Czech Republic), Hana BUČKOVÁ (203 Czech Republic, belonging to the institution), Markéta VLCKOVA (203 Czech Republic), Miroslava HANCAROVA (203 Czech Republic), Tomáš FREIBERGER (203 Czech Republic, guarantor, belonging to the institution), Barbora RAVČUKOVÁ (203 Czech Republic, belonging to the institution), Karel VESELÝ (203 Czech Republic, belonging to the institution), Lenka FAJKUSOVÁ (203 Czech Republic, belonging to the institution), Lenka KOPEČKOVÁ (203 Czech Republic, belonging to the institution), David SUMERAUER (203 Czech Republic), Edita KABICKOVA (203 Czech Republic), Anna SEDIVA (203 Czech Republic), Jan STARY (203 Czech Republic) and Zdeněk SEDLACEK (203 Czech Republic).
Edition Pediatrics, AMER ACAD PEDIATRICS, 2012, 0031-4005.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30209 Paediatrics
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 5.119
RIV identification code RIV/00216224:14740/12:00060408
Organization unit Central European Institute of Technology
Doi http://dx.doi.org/10.1542/peds.2011-0870
UT WoS 000300395100035
Keywords in English SH2D1A; ODZ1; SAP; teneurin; X-linked lymphoproliferative syndrome; aplastic anemia; lymphoma; dermatitis; psoriasis; dermatosclerosis; vesiculobullous skin disease
Tags ok, rivok
Tags International impact
Changed by Changed by: Olga Křížová, učo 56639. Changed: 12. 4. 2013 09:37.
Abstract
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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