Farrokhi S, Shabani M, Aryan Z, Zoghi S, Krolo A, Boztug K, Rezaei N
Department of Immunology, Asthma and Allergy, The Persian Gulf Tropical Medicine Research Center, Bushehr University of Medical Sciences, Bushehr, Iran.
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Boston, MA, USA.
Allergol Immunopathol (Madr). 2018 May-Jun;46(3):263-275. doi: 10.1016/j.aller.2017.04.006. Epub 2017 Jul 1.
The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased susceptibility to respiratory and gastrointestinal infections, failure to thrive and early mortality. This syndrome is caused by mutations in transcription regulators of the MHC II gene and results in development of blind lymphocytes due to the lack of indicatory MHC II molecules. Despite homogeneity of clinical manifestations of patients with MHC II deficiency, the genetic defects underlying this disease are heterogeneous. Herein, we report an Iranian patient with MHC II deficiency harbouring a novel mutation in RFXANK and novel misleading clinical features. He had ataxic gait and dysarthria from 30 months of age. Epidemiology, clinical and immunological features, therapeutic options and prognosis of patients with MHC II are reviewed in this paper.
MHC II 缺陷是一种罕见的常染色体隐性原发性免疫缺陷综合征，易患呼吸道和胃肠道感染、生长发育不良及早期死亡。该综合征由 MHC II 基因转录调节因子的突变引起，由于缺乏指示性 MHC II 分子导致盲淋巴细胞的发育。尽管 MHC II 缺陷患者的临床表现具有同质性，但该疾病的潜在基因缺陷是异质性的。在此，我们报告一名患有 MHC II 缺陷的伊朗患者，其 RFXANK 基因存在新的突变及新的误导性临床特征。他从 30 个月大时就出现共济失调步态和构音障碍。本文对 MHC II 缺陷患者的流行病学、临床和免疫学特征、治疗选择及预后进行了综述。
