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首页> 美国卫生研究院文献>Nature Public Health Emergency Collection >Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature
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Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

机译：软骨毛发发育不良的表型变化：肉芽肿性皮肤炎症和严重的T细胞免疫缺陷为其他身材好矮小儿童的初步临床表现

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We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at the time of current investigations, she had no radiological skeletal features characteristics for cartilage hair hypoplasia, but we found a disease causing (RNase mitochondrial RNA processing endoribonuclease) gene mutation. Whilst search for HLA matched unrelated donor for haematopoietic stem cell transplantation (HSCT) was underway, she developed rapidly progressive EBV-related lymphoproliferative disorder requiring laparotomy and small bowel resection, and was treated with anti-B cell monoclonal antibody and eventually curative allogeneic HSCT. Screening for gene mutations should be part of immunological evaluation of patients with ‘severe and/or combined’ T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features.
机译：我们报告了一个出生后身材矮小的孩子，他本来很好，当被诊断出患有严重的T细胞免疫缺陷时，在2.8岁时出现进行性肉芽肿性皮肤病变。当先前检查过矮小的身材时，以及在当前调查时，她没有软骨头发发育不全的放射骨骼特征，但是我们发现了引起疾病的基因（RNase线粒体RNA处理内切核糖核酸酶）基因突变。在寻找与HLA匹配的无关供血者进行造血干细胞移植（HSCT）的同时，她发展出了快速进行性EBV相关的淋巴增生性疾病，需要进行剖腹手术和小肠切除术，并接受了抗B细胞单克隆抗体治疗，并最终治愈了同种异体HSCT。对基因突变的筛查应作为对来源不明的“严重和/或合并” T细胞免疫缺陷患者进行免疫学评估的一部分，尤其是与身材矮小且不论是否存在放射骨骼特征有关的患者。

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