Blurring the Lines in Interferon γ Receptor Deficiency: An Infant With Near-Fatal Airway Disease
Blurring the Lines in Interferon γ Receptor Deficiency: An Infant With Near-Fatal Airway Disease
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DOI：
10.1542/peds.2010-0387
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发表时间：
2011-05-01
期刊：
影响因子：
8
通讯作者：
Harris, Margaret-Anne
中科院分区：
文献类型：
--
作者：
Auld, Benjamin;Urquhart, Donald;Harris, Margaret-Anne
干扰素γ（IFN-γ）途径的缺陷已成为非结核分枝杆菌感染的公认原因。我们在此报告一例常染色体显性 IFN-γ 受体 1 (IFN-gamma-R1) 缺陷症，该病例在 16 个月大时就出现，并伴有严重的临床病程。鸟分枝杆菌复合体是从一名儿童的支气管冲洗液中培养出来的，该儿童在 4 个月的鼻漏、喘息和急性肺叶实变病史后出现原发性支气管内疾病。多灶性堪萨斯分枝杆菌骨髓炎和皮肤分枝杆菌复合体的母亲病史导致两个家庭成员的 IFN-gamma-R1 818del4 缺失（核苷酸位置 818 处的 4 个碱基对缺失）得到遗传确认。该病例证明了分枝杆菌疾病与 IFN-γ 途径缺陷之间的联系，其诊断有助于更准确的治疗和遗传咨询。该病例还对所报道的常染色体显性和隐性 IFN-gamma-R1 表型的不同表现、治疗和预后提出了疑问。儿科 2011；127：e1352-e1355
Deficiencies of the interferon gamma (IFN-gamma) pathway have become a well-recognized cause of nontuberculous mycobacterial infection. We report here a case of autosomal dominant IFN-gamma receptor 1 (IFN-gamma-R1) deficiency presenting at the unusually young age of 16 months with a severe clinical course. Mycobacterium avium complex was cultured from bronchial washings of a child who presented with primary endobronchial disease after a 4-month history of rhinorrhea, wheeze, and acute lobar consolidation. A maternal history of multifocal Mycobacterium kansasii osteomyelitis and cutaneous M avium complex led to genetic confirmation of IFN-gamma-R1 818del4 deletion (a 4 base pair deletion at nucleotide position 818) in both family members. This case demonstrates the link between mycobacterial disease and IFN-gamma pathway deficiency, the diagnosis of which facilitates more accurate therapy and genetic counseling. The case also raises questions about the reported distinct presentation, treatment, and prognosis of autosomal dominant and recessive IFN-gamma-R1 phenotypes. Pediatrics 2011;127:e1352-e1355