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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Why newborn screening for severe combined immunodeficiency is essential: a case report.
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Why newborn screening for severe combined immunodeficiency is essential: a case report.

机译：为什么新生儿筛查严重的联合免疫缺陷至关重要：一例病例。

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Physicians caring for infants in the first months of life need to know the normal ranges for absolute lymphocyte counts (ALCs) during that age. Any ALC <2500/microL is potentially pathogenic in early infancy and should be evaluated. We report the case of a 4-month-old white girl with a 2-month history of an oral ulcer, intermittent fever, recurrent otitis, decreased appetite, weight loss, and a new respiratory illness with hypoxemia. She had been in an in-home day care since birth. The patient's primary care physician had seen her frequently and obtained blood counts, but her persistent lymphopenia had not been appreciated. The infant was ultimately diagnosed with T(-)B(-)NK(+) (lacking both B and T lymphocytes and having primarily natural killer [NK] cells), recombinase-activating gene 2 (RAG2)-deficient severe combined immunodeficiency (SCID). However, because she had already developed 2 difficult-to-treat viral infections (parainfluenza 3 and adenovirus), she did not survive long enough to receive a bone marrow transplant. Newborn screening would not only have made the diagnosis at birth but would have led to measures to protect her from becoming infected before she could receive a transplant. Newborn screening would also reveal the true incidence of SCID and define the range of conditions characterized by severely impaired T-cell development. Until screening for SCID and other T-cell defects becomes available for all neonates (either by quantifying T-cell receptor excision circles in Guthrie spots or using other tests that quantify T cells), all pediatricians should know the normal range for ALCs according to age. Recognition of the characteristic lymphopenia of SCID can facilitate early diagnosis.
机译：在生命的头几个月里照顾婴儿的医师需要了解该年龄段内绝对淋巴细胞计数（ALC）的正常范围。任何ALC <2500 / microL在婴儿早期都可能具有致病性，应进行评估。我们报告了一个4个月大的白人女孩的案例，该女孩有2个月的口腔溃疡，间歇性发烧，复发性中耳炎，食欲下降，体重减轻以及新的低氧血症性呼吸道疾病史。自出生以来，她一直在家庭日托中工作。该患者的初级保健医师经常见过她并获得了血球计数，但她的持续性淋巴细胞减少并未受到赞赏。该婴儿最终被诊断出患有T（-）B（-）NK（+）（缺乏B和T淋巴细胞，并且主要具有自然杀伤[NK]细胞），重组酶激活基因2（RAG2）缺陷的严重联合免疫缺陷病（ SCID）。但是，由于她已经发展出2种难以治疗的病毒感染（副流感3和腺病毒），因此她的存活时间不足以接受骨髓移植。新生儿筛查不仅可以在出生时做出诊断，还可以采取措施保护她在接受移植之前不被感染。新生儿筛查还将揭示SCID的真实发生率，并确定以严重受损的T细胞发育为特征的疾病范围。在对所有新生儿进行SCID和其他T细胞缺陷筛查之前（通过量化Guthrie斑点中的T细胞受体切除环或使用其他量化T细胞的检查），所有儿科医生都应根据年龄了解ALC的正常范围。识别SCID的特征性淋巴细胞减少可以促进早期诊断。

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