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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8056" target="_blank" >RIV/00064203:_____/12:8056 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14740/12:00060408 RIV/00216208:11130/12:8056 RIV/00209775:_____/12:#0000241 RIV/65269705:_____/12:#0001866

Result on the web

<a href="http://dx.doi.org/10.1542/peds.2011-0870" target="_blank" >http://dx.doi.org/10.1542/peds.2011-0870</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

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

Original language 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 apossible 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

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2012

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Pediatrics

ISSN

0031-4005

e-ISSN

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Volume of the periodical

129

Issue of the periodical within the volume

2

Country of publishing house

US - UNITED STATES

Number of pages

6

Pages from-to

"E523"-"E528"

UT code for WoS article

000300395100035

EID of the result in the Scopus database

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