Shorter birth length and decreased T-cell production and function predict severe infections in children with non–severe combined immunodeficiency cartilage–hair hypoplasia

Background: Cartilage–hair hypoplasia (CHH) is a syndromic inborn error of immunity caused by variants in the RMRP gene. Disease manifestations vary, and their ability to predict outcome is uncertain. The optimal management of infants with CHH who do not fulfill classical severe combined immunodefic...

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Bibliografiska uppgifter

Huvudupphov:	Eetu Pello, MD, Leena Kainulainen, MD, PhD, Mikko Vakkilainen, MSc, Paula Klemetti, MD, PhD, Mervi Taskinen, MD, PhD, Outi Mäkitie, MD, PhD, Svetlana Vakkilainen, MD, PhD
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Elsevier 2024-02-01
Serie:	Journal of Allergy and Clinical Immunology: Global
Ämnen:	Immunodeficiency inborn error of immunity lymphopenia machine learning RMRP TREC
Länkar:	http://www.sciencedirect.com/science/article/pii/S2772829323001157
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