Murillo Casas Andrea Dionelly, Duarte Dorado Diana María, Olaya Hernández Manuela
Facultad de Ciencias de la Salud, Servicio de Alergología Pediátrica, Universidad ICESI, Cali, Colombia.
Departamento de Pediatría, Servicio de Alergología e Inmunología Pediátrica, Fundación Valle de Lili, Cali, Colombia.
Front Pediatr. 2024 Jan 16;11:1307607. doi: 10.3389/fped.2023.1307607. eCollection 2023.
Lymphocytic interstitial pneumonia (LIP) in pediatric patients without human immunodeficiency virus (HIV) infection remains a poorly characterized and enigmatic disease. Immunological dysregulation, mutations in the COPA gene, and increased morbidity and mortality have been reported in these patients. We present a case of LIP in a pediatric patient without HIV infection. This patient was infected with human T-lymphotropic virus type 1 (HTLV-1) and required right lower lobectomy with pathological findings compatible with lymphocytic interstitial pneumonia. In addition, bronchiectasis, dermatological involvement, and malnutrition were documented. However, no autoimmune disease, polymyositis, myelopathy, or opportunistic infections were found. There were no abnormalities in cellular and humoral immunity. A genetic study identified heterozygous mutations in the SCNN1B, FCHO1, and IL7R genes using single exome sequencing of coding and splicing regions. Although these heterozygous variants are not reported to be aetiological for LIP or diagnostic for the patient's congenital immunodeficiency, we believe they are associated with the severe lung damage seen in the patient's case.
在未感染人类免疫缺陷病毒（HIV）的儿科患者中，淋巴细胞间质性肺炎（LIP）仍然是一种特征描述不清且神秘的疾病。据报道，这些患者存在免疫调节异常、COPA基因突变以及发病率和死亡率增加的情况。我们报告一例未感染HIV的儿科患者的LIP病例。该患者感染了1型人类嗜T淋巴细胞病毒（HTLV-1），需要进行右下叶切除术，病理结果与淋巴细胞间质性肺炎相符。此外，还记录到支气管扩张、皮肤受累和营养不良。然而，未发现自身免疫性疾病、多发性肌炎、脊髓病或机会性感染。细胞免疫和体液免疫均无异常。一项基因研究通过对编码区和剪接区进行单外显子测序，在SCNN1B、FCHO1和IL7R基因中鉴定出杂合突变。尽管这些杂合变异未被报道为LIP的病因或该患者先天性免疫缺陷的诊断依据，但我们认为它们与该患者病例中所见的严重肺损伤有关。
