Department of Pediatrics, University Hospital Würzburg, Würzburg, Germany.
German Center for Infection Research, Site Hamburg-Lübeck-Borstel-Riems, Germany.
Neonatology. 2024;121(5):646-655. doi: 10.1159/000540436. Epub 2024 Aug 23.
Inborn errors of immunity (IEI), formerly referred to as primary immunodeficiencies, manifest with a wide range of symptoms such as increased susceptibility to infections, immune dysregulation, and autoinflammation. Although most cases manifest in childhood, onset during the neonatal period is rare but potentially critical.
In this review, we discuss the diverse clinical presentations of IEI and the specific challenges they pose to neonatologists. Rather than detailing every molecular defect, we focus on common clinical scenarios in neonates and young infants, providing practical diagnostic strategies to ensure timely and effective therapeutic interventions.
Clinical presentations of IEI in neonates may include delayed separation of the umbilical cord, skin rashes such as eczema and erythroderma, and recurrent episodes of inflammation. We also highlight immunological emergencies that require urgent medical attention, such as hyperinflammatory activity mimicking acute neonatal liver failure, sometimes seen in hemophagocytic lymphohistiocytosis. We also discuss appropriate medical action in the case of a positive newborn screening for severe T-cell defects. Early medical intervention in such circumstances may significantly improve outcomes.
先天性免疫缺陷（IEI），以前称为原发性免疫缺陷，表现出广泛的症状，如易感染、免疫失调和自身炎症。尽管大多数病例在儿童期表现出来，但新生儿期发病很少见，但可能很关键。
在这篇综述中，我们讨论了 IEI 的不同临床表现以及它们对新生儿科医生的特殊挑战。我们没有详细描述每个分子缺陷，而是关注新生儿和婴儿常见的临床情况，提供实用的诊断策略，以确保及时有效的治疗干预。
新生儿 IEI 的临床表现可能包括脐带延迟脱落、皮疹（如湿疹和红皮病）和炎症反复发作。我们还强调了需要紧急医疗关注的免疫紧急情况，例如类似急性新生儿肝衰竭的高炎症活动，有时见于噬血细胞性淋巴组织细胞增多症。我们还讨论了在新生儿严重 T 细胞缺陷筛查阳性的情况下的适当医疗措施。在这种情况下早期的医疗干预可能会显著改善结果。
