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Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases
Ester Mejstříková, Aleš Janda, Ondřej Hrušák, Hana Bučková, Markéta Vlčková, Miroslava Hančárová, Tomáš Freiberger, Barbora Ravčuková, Karel Veselý, Lenka Fajkusová, Lenka Kopečková, David Sumerauer, Edita Kabíčková, Anna Šedivá, Jan Starý,...
Language English Country United States
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
Grant support
NS10398
MZ0
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NS9997
MZ0
CEP Register
NS10480
MZ0
CEP Register
Digital library NLK
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- MeSH
- Anemia, Aplastic diagnosis genetics therapy MeSH
- Chromosome Deletion MeSH
- Child MeSH
- Adult MeSH
- Exons genetics MeSH
- Phenotype MeSH
- Histiocytic Sarcoma diagnosis therapy MeSH
- Infectious Mononucleosis diagnosis therapy MeSH
- Intracellular Signaling Peptides and Proteins genetics MeSH
- Comorbidity MeSH
- Humans MeSH
- Chromosomes, Human, X genetics MeSH
- Scleroderma, Localized diagnosis genetics MeSH
- Longitudinal Studies MeSH
- Lymphoproliferative Disorders diagnosis genetics therapy MeSH
- Membrane Proteins genetics MeSH
- Adolescent MeSH
- Child, Preschool MeSH
- Peripheral Blood Stem Cell Transplantation MeSH
- Skin Diseases, Vesiculobullous diagnosis genetics therapy MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
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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- $a Mejstříková, Ester $u Department of Pediatric Hematology and Oncology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic; Childhood Leukemia Investigation Prague (CLIP), Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
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