一名患有X连锁无汗性外胚层发育不良伴免疫缺陷的婴儿因肺炎就诊：病例报告。
An infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with pneumonia: A case report.
作者信息
Toyohara Miwako, Kajiho Yuko, Toyofuku Etsushi, Takahashi Chie, Owada Keiho, Kanda Shoichiro, Harita Yutaka, Ohnishi Hidenori, Wada Taizo, Imai Kohsuke, Kanegane Hirokazu, Morio Tomohiro, Oka Akira
机构信息
Department of Pediatrics The University of Tokyo Tokyo Japan.
Department of Pediatrics and Developmental Biology Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU) Tokyo Japan.
出版信息
Clin Case Rep. 2021 Nov 16;9(11):e05093. doi: 10.1002/ccr3.5093. eCollection 2021 Nov.
pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms. Genetic counseling is crucial for incontinentia pigmenti families in advance of pregnancy because lethal infections can occur before the diagnosis of X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
对于出现缓慢进展性发绀的婴儿，即使没有发热或呼吸道症状，也应考虑原发性免疫缺陷相关的肺炎。对于色素失禁症家族，在怀孕前进行遗传咨询至关重要，因为在诊断出伴有免疫缺陷的X连锁无汗性外胚层发育不良之前可能会发生致命感染。
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