Dekeyser Cathérine, Naesens Leslie, Offner Fritz, De Vriendt Ciel, Schauwvlieghe Alexander, Kerre Tessa, Laureys Guy
Department of Neurology, Ghent University Hospital, Corneel Heymanslaan 10, Ghent, Belgium.
Primary Immunodeficiency Research Lab, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Corneel Heymanslaan 10, Ghent, Belgium; Department of Internal Medicine and Pediatrics, Ghent University hospital, Corneel Heymanslaan, 10, Ghent, Belgium.
J Neuroimmunol. 2022 Jun 15;367:577866. doi: 10.1016/j.jneuroim.2022.577866. Epub 2022 Apr 12.
A 49-year-old patient with a history of lymphoproliferation and autoimmune cytopenias presented with unexplained longitudinal extensive transverse myelitis. Flow cytometry on peripheral blood showed an elevated level of double negative T lymphocytes, a finding typical for autoimmune lymphoproliferative syndrome (ALPS). Inborn error of immunity (IEI) gene panel demonstrated a heterozygous variant in the FAS gene (c.857G > A, p.(Gly286Glu)), formally confirming the diagnosis. Autoimmune neurological conditions in a context of predisposition for infection and lymphoproliferation should raise suspicion of IEI. Specific testing for ALPS should be considered in patients with a history of non-malignant lymphoproliferation, multilineage cytopenias and unexplained autoimmune (neurological) manifestations.
一名有淋巴细胞增殖和自身免疫性血细胞减少病史的49岁患者出现原因不明的纵向广泛横贯性脊髓炎。外周血流式细胞术显示双阴性T淋巴细胞水平升高，这是自身免疫性淋巴细胞增殖综合征（ALPS）的典型表现。免疫缺陷（IEI）基因检测显示FAS基因存在杂合变异（c.857G > A，p.(Gly286Glu)），正式确诊。在易发生感染和淋巴细胞增殖的背景下出现自身免疫性神经疾病应怀疑免疫缺陷。对于有非恶性淋巴细胞增殖、多系血细胞减少和不明原因自身免疫（神经）表现病史的患者，应考虑进行ALPS的特异性检测。
