De Luca Filippo, Valenzise Mariella, Alaggio Rita, Arrigo Teresa, Crisafulli Giuseppe, Salzano Giuseppina, Cervato Sara, Mariniello Barbara, Lazzarotto Francesca, Betterle Corrado
Department of Pediatrics, University of Messina, Via Consolare Valeria, Messina, Italy.
Eur J Pediatr. 2008 Nov;167(11):1283-8. doi: 10.1007/s00431-008-0668-3. Epub 2008 Feb 15.
We report the clinical and immunological features of the autoimmune regulator gene (AIRE) in two Sicilian brothers with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). They were compound heterozygotes with R203X/R257X. Both had oral candidiasis since the first year of life and later developed hypoparathyroidism and Addison disease. The elder brother had experienced recurrent lower respiratory infections since 5 years of age and over the years developed severe obstructive lung disease with bronchiectasis, which led to death at 18 years of age. Both brothers had circulating autoantibodies against tryptophan hydroxylase and serotonin-producing cells were absent in the duodenal mucosa. This was associated with intestinal dysfunction in only the elder brother.
(1) In the first Sicilian family with APECED reported up to now we found a heterozygous mutation that had been previously reported only once. (2) In the older brother of this family we observed a severe and lethal lung disease; this case adds to a growing literature describing this association between APECED and respiratory illnesses. (3) Tryptophan hydroxylase antibodies might be hypothesized to be the marker of an autoimmune gastrointestinal illness possibly associated with APECED.
我们报告了两名患有自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）的西西里兄弟的自身免疫调节基因（AIRE）的临床和免疫学特征。他们是R203X/R257X复合杂合子。两人自出生第一年起就患有口腔念珠菌病，后来发展为甲状旁腺功能减退和艾迪生病。哥哥自5岁起反复发生下呼吸道感染，多年来发展为伴有支气管扩张的严重阻塞性肺病，于18岁死亡。两兄弟均有针对色氨酸羟化酶的循环自身抗体，十二指肠黏膜中缺乏产生5-羟色胺的细胞。这仅在哥哥中与肠道功能障碍有关。
（1）在目前报道的首个西西里APECED家族中，我们发现了一个此前仅报道过一次的杂合突变。（2）在这个家族的哥哥中，我们观察到一种严重的致命性肺病；该病例增加了越来越多描述APECED与呼吸道疾病之间这种关联的文献。（3）可以推测色氨酸羟化酶抗体可能是一种可能与APECED相关的自身免疫性胃肠疾病的标志物。
