X-linked lymphoproliferative syndrome type 1 complicated with secondary hemophagocytic lymphohistiocytosis and ileal perforation: case report and literature review

• Published in: Zhonghua er ke za zhi Vol. 54; no. 4; p. 290
• Main Authors: Xiao, L, Guan, X M, Meng, Y, Zhao, X D, Xian, Y, An, Y F, Yu, J
• Format: Journal Article
• Language: Chinese
• Published: China 01.04.2016
• Subjects: Exons; Herpesvirus 4, Human; Humans; Ileum - injuries; INDEL Mutation; Intestinal Perforation - complications; Lymphohistiocytosis, Hemophagocytic - complications; Lymphoproliferative Disorders - complications; Mutation, Missense; Retrospective Studies; Signaling Lymphocytic Activation Molecule Associated Protein - genetics
• ISSN: 0578-1310
• DOI: 10.3760/cma.j.issn.0578-1310.2016.04.013

To analyze and summarize the clinical characteristics, laboratory tests and treatment of X-linked lymphoproliferative syndrome type 1 (XLP-1). A retrospective study was done in 2012 on an XLP-1 patient to collect the data on clinical manifestation, laboratory examination, gene and protein expression, complications and prognosis. Literatures were reviewed in Pubmed with the key word"X-linked lymphoproliferative syndrome". The patient with persistent high fever, jaundice, abdominal distension, hepatosplenomegaly and lymphadenectasis, rash and suspicious positive family history; the patient eventually died of hemophagocytic lymphohistiocytosis (HLH), with intestinal perforation, intestinal infection and bleeding after being infected with EB virus. This patient with SH2D1A gene exon 1 large fragment of the coding region of the nucleotide deletion and insertion mutations causing missense mutations (p.Leu25Lys) and nonsense mutations (stop codon TAG was inserted after missense mutation so that the protein encoded b