四种疾病，即重叠性大疱性表皮松解症（PLAID）、自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良综合征（APLAID）、冷球蛋白血症相关周期性综合征3型（FCAS3）和常见变异型免疫缺陷病（CVID）以及一个基因（磷脂酶C，γ-2；）：显著的临床表型重叠与差异。
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; ): Striking clinical phenotypic overlap and difference.
作者信息
Kutukculer Necil, Topyildiz Ezgi, Berdeli Afig, Guven Bilgin Burcu, Aykut Ayca, Durmaz Asude, Cogulu Ozgur, Aksu Guzide, Edeer Karaca Neslihan
机构信息
Ege University Faculty of Medicine Department of Pediatric Immunology and Rheumatology Izmir Turkey.
Ege University Faculty of Medicine Department of Pediatric Allergy and Immunology Izmir Turkey.
出版信息
Clin Case Rep. 2021 Mar 2;9(4):2023-2031. doi: 10.1002/ccr3.3934. eCollection 2021 Apr.
We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long-term clinical and genetical experiences. Some CVID patients have the same disease-causing mutations in gene, so it may be better to define all of them as "deficiency."
基于我们长期的临床和遗传学经验，我们认为原发性淋巴组织发育异常（PLAID）、自身免疫性原发性淋巴组织发育异常（APLAID）和3型常见可变免疫缺陷综合征（FCAS3）应被视为同一潜在病症的不同方面。一些常见可变免疫缺陷（CVID）患者在该基因中具有相同的致病突变，因此将所有这些患者定义为“缺陷”可能更好。
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