| Content Provider |
World Health Organization (WHO)-Global Index Medicus |
| Author |
Liu, Hongxing Zhang, Yang Tong, Chunrong Teng, Wen Zhang, Chonglin Zhao, Shunying Liu, Jinrong Zhang, Bingchang Ju, Ying Wang, Fang Tian, Wenjun |
| Description |
Author Affiliation: Liu J ( Department of Respiratory and Infectious Diseases, Beijing Children's Hospital of Capital Medical University, Beijing 100045, P.R. China.); Tian W ( Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, P.R. China.); Wang F ( Department of Molecular Genetics Laboratory, Beijing Daopei Hospital, Beijing 100049, P.R. China.); Teng W ( Department of Molecular Genetics Laboratory, Beijing Daopei Hospital, Beijing 100049, P.R. China.); Zhang Y ( Department of Molecular Genetics Laboratory, Beijing Daopei Hospital, Beijing 100049, P.R. China.); Tong C ( Department of Molecular Genetics Laboratory, Beijing Daopei Hospital, Beijing 100049, P.R. China.); Zhang C ( Department of Respiratory, Xuzhou Children's Hospital, Xuzhou, Jinagsu 221002, P.R. China.); Ju Y ( Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, P.R. China.); Zhang B ( Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, P.R. China.); Zhao S ( Department of Respiratory and Infectious Diseases, Beijing Children's Hospital of Capital Medical University, Beijing 100045, P.R. China.); Liu H ( Department of Molecular Genetics Laboratory, Beijing Daopei Hospital, Beijing 100049, P.R. China.) |
| Abstract |
Xlinked lymphoproliferative disease type 1 (XLP1) is a rare genetic immunodeficiency disease, which occurs due to germline mutations in the SH2D1A gene. This gene has been reported to encode the adaptor molecule signaling lymphocytic activation moleculeassociated protein XLP1 is generally triggered by the EpsteinBarr virus (EBV) infection. The present study reported the case of a 4yearold male who presented with a high fever, hypogammaglobulinemia, diffuse lung disease and encephalitis. The patient was infected with the lymphocytic choriomeningitis virus (LCMV), not EBV or any other human herpes virus. The patient was found to carry a SH2D1A c.7G>T/p.A3S mutation, which was inherited from the mother and maternal grandfather, as well as a SH2D1A c.228T>A/p.Y76X mutation, which was identified to be a maternalonset de novo mutation at the time of germline development of the patient's mother. To the best of our knowledge, the present study is the first reported case of maternalonset XLP1 with a de novo SH2D1A mutation and LCMV infection. |
| ISSN |
17912997 |
| e-ISSN |
17913004 |
| DOI |
10.3892/mmr.2015.3173 |
| Journal |
Molecular Medicine Reports |
| Issue Number |
5 |
| Volume Number |
11 |
| Language |
English |
| Publisher |
Spandidos Publications |
| Publisher Date |
2015-05-01 |
| Publisher Place |
Greece |
| Access Restriction |
Open |
| Subject Keyword |
Intracellular Signaling Peptides And Proteins Genetics Lymphocytic Choriomeningitis Complications Lymphocytic Choriomeningitis Virus Lymphoproliferative Disorders Etiology Mutation Child, Preschool Dna Mutational Analysis Genes, X-linked Diagnosis Pedigree Radiography, Thoracic Tomography, X-ray Computed Research Support, Non-u.s. Gov't Discipline Molecular Biology |
| Content Type |
Text |
| Resource Type |
Article Case study |
| Subject |
Genetics Biochemistry Molecular Biology Cancer Research Molecular Medicine Oncology |
