title: Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X‑linked lymphoproliferative disease type 1: a case report.
abstract: X‑linked 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 molecule‑associated protein XLP1 is generally triggered by the Epstein‑Barr virus (EBV) infection. The present study reported the case of a 4‑year‑old 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 maternal‑onset 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 maternal‑onset XLP1 with a de novo SH2D1A mutation and LCMV infection.
authors.affiliation: Department of Respiratory and Infectious Diseases, Beijing Children's Hospital of Capital Medical University, Beijing 100045, P.R. China.
authors.forename: Jinrong
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, P.R. China.
authors.forename: Wenjun
authors.initials: W
authors.lastname: Tian
authors.affiliation: Department of Molecular Genetics Laboratory, Beijing Daopei Hospital, Beijing 100049, P.R. China.
authors.forename: Fang
authors.initials: F
authors.lastname: Wang
authors.affiliation: Department of Molecular Genetics Laboratory, Beijing Daopei Hospital, Beijing 100049, P.R. China.
authors.forename: Wen
authors.initials: W
authors.lastname: Teng
authors.affiliation: Department of Molecular Genetics Laboratory, Beijing Daopei Hospital, Beijing 100049, P.R. China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Molecular Genetics Laboratory, Beijing Daopei Hospital, Beijing 100049, P.R. China.
authors.forename: Chunrong
authors.initials: C
authors.lastname: Tong
authors.affiliation: Department of Respiratory, Xuzhou Children's Hospital, Xuzhou, Jinagsu 221002, P.R. China.
authors.forename: Chonglin
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, P.R. China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Ju
authors.affiliation: Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250021, P.R. China.
authors.forename: Bingchang
authors.initials: B
authors.lastname: Zhang
authors.affiliation: Department of Respiratory and Infectious Diseases, Beijing Children's Hospital of Capital Medical University, Beijing 100045, P.R. China.
authors.forename: Shunying
authors.initials: S
authors.lastname: Zhao
authors.affiliation: Department of Molecular Genetics Laboratory, Beijing Daopei Hospital, Beijing 100049, P.R. China.
authors.forename: Hongxing
authors.initials: H
authors.lastname: Liu
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D050172:Genes, X-Linked; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008216:Lymphocytic Choriomeningitis / Q000150:complications*; D008217:Lymphocytic choriomeningitis virus; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D009154:Mutation; D010375:Pedigree; D013902:Radiography, Thoracic; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D014057:Tomography, X-Ray Computed
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein