title: Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).
abstract: Hyper-immunoglobulin E recurrent infection syndromes (HIES) have distinct features, with identified associated mutations of STAT3, TYK2, and DOCK8. Among 197 Taiwanese patients with primary immunodeficiency on a referral-base of over 23 million inhabitants, STAT3 (R382W and Q469R) and DOCK8 mutations (exon 1-9 deletion) were identified in two patients each from six AD-HIES and five AR-HIES patients, respectively. Aside from decreased Th17 and memory B cells, characteristic facies and pneumatocele were not mutually exclusive regardless of STAT3 and DOCK8 mutations. One with novel DOCK8 deletion had notable cytomegalovirus retinitis, cerebral vasculitis, lead deposition, and amenorrhea. In adolescence, three AD-HIES patients without STAT3 mutation died of myocardial infarction, staphylococcus sepsis, and proteus sepsis while receiving chemotherapy for lymphoma. Close follow-up of the HIES phenotype rather than identifying genetic mutations should be the cornerstone of intervention at this juncture because of relatively lower percentage of identifying mutations in Taiwanese HIES (4/11; 36.5%).
authors.affiliation: Primary Immunodeficiency Care And Research (PICAR) Institute, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan. wen2707@hotmail.com
authors.forename: Wen-I
authors.initials: WI
authors.lastname: Lee
authors.forename: Jing-Long
authors.initials: JL
authors.lastname: Huang
authors.forename: Syh-Jae
authors.initials: SJ
authors.lastname: Lin
authors.forename: Kuo-Wei
authors.initials: KW
authors.lastname: Yeh
authors.forename: Li-Chen
authors.initials: LC
authors.lastname: Chen
authors.forename: Liang-Shiou
authors.initials: LS
authors.lastname: Ou
authors.forename: Tsung-Chieh
authors.initials: TC
authors.lastname: Yao
authors.forename: Meng-Ying
authors.initials: MY
authors.lastname: Hsieh
authors.forename: Yhu-Chering
authors.initials: YC
authors.lastname: Huang
authors.forename: Hong-Ren
authors.initials: HR
authors.lastname: Yu
authors.forename: Ho-Chang
authors.initials: HC
authors.lastname: Kuo
authors.forename: Kunder D
authors.initials: KD
authors.lastname: Yang
authors.forename: Tang-Her
authors.initials: TH
authors.lastname: Jaing
mesh_terms: D000293:Adolescent; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D003587:Cytomegalovirus / Q000254:growth & development; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007073:Immunoglobulin E / Q000096:biosynthesis / Q000276:immunology*; D007223:Infant; D007231:Infant, Newborn; D007589:Job Syndrome / Q000235:genetics / Q000276:immunology / Q000473:pathology / Q000821:virology; D008137:Longitudinal Studies; D008297:Male; D009154:Mutation; D010641:Phenotype; D012333:RNA, Messenger; D012173:Retinitis / Q000276:immunology / Q000821:virology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D050796:STAT3 Transcription Factor / Q000235:genetics* / Q000276:immunology; D017422:Sequence Analysis, DNA; D053634:TYK2 Kinase / Q000235:genetics* / Q000276:immunology; D013624:Taiwan
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; D012333:RNA, Messenger; D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human; D007073:Immunoglobulin E; D053634:TYK2 Kinase; C070139:TYK2 protein, human