{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T10:04:03Z","timestamp":1769853843829,"version":"3.49.0"},"reference-count":20,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,2,1]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1542\/peds.2011-0870","type":"journal-article","created":{"date-parts":[[2012,1,24]],"date-time":"2012-01-24T05:34:55Z","timestamp":1327383295000},"page":"e523-e528","source":"Crossref","is-referenced-by-count":11,"title":["Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 <i>SH2D1A<\/i> Deletion Cases"],"prefix":"10.1542","volume":"129","author":[{"given":"Ester","family":"Mejst\u0159\u00edkov\u00e1","sequence":"first","affiliation":[{"name":"Departments of Pediatric Hematology and Oncology,"},{"name":"Childhood Leukemia Investigation Prague (CLIP), Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ale\u0161","family":"Janda","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Hematology and Oncology,"},{"name":"Centre of Chronic Immunodeficiency (CCI), University Medical Centre Freiburg and University of Freiburg, Freiburg, Germany;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ond\u0159ej","family":"Hru\u0161\u00e1k","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Hematology and Oncology,"},{"name":"Childhood Leukemia Investigation Prague (CLIP), Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hana","family":"Bu\u010dkov\u00e1","sequence":"additional","affiliation":[{"name":"Dermatological Division, Department of Pediatrics, University Hospital Brno, Medical Faculty of Masaryk University, Brno, Czech Republic;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark\u00e9ta","family":"Vl\u010dkov\u00e1","sequence":"additional","affiliation":[{"name":"Biology and Medical Genetics, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miroslava","family":"Han\u010d\u00e1rov\u00e1","sequence":"additional","affiliation":[{"name":"Biology and Medical Genetics, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom\u00e1\u0161","family":"Freiberger","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, and Department of Clinical Immunology and Allergology, Masaryk University, Brno, Czech Republic;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbora","family":"Rav\u010dukov\u00e1","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, and Department of Clinical Immunology and Allergology, Masaryk University, Brno, Czech 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