一名早年患有严重和反复呼吸道感染的患者的 TLR3 和 CTPS2 同时发生超常突变。

IF 7.2 2区医学 Q1 IMMUNOLOGY

Journal of Clinical Immunology Pub Date : 2024-09-23 DOI:10.1007/s10875-024-01804-8

Salim Bougarn, Andrea Guennoun, Taushif Khan, Rafah Mackeh, Mehdi Adeli, Nico Marr

引用次数: 0

摘要

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life.

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来源期刊

Journal of Clinical Immunology 医学-免疫学

CiteScore

12.20

自引率

9.90%

发文量

218

审稿时长

2 months

期刊介绍： The Journal of Clinical Immunology publishes impactful papers in the realm of human immunology, delving into the diagnosis, pathogenesis, prognosis, or treatment of human diseases. The journal places particular emphasis on primary immunodeficiencies and related diseases, encompassing inborn errors of immunity in a broad sense, their underlying genotypes, and diverse phenotypes. These phenotypes include infection, malignancy, allergy, auto-inflammation, and autoimmunity. We welcome a broad spectrum of studies in this domain, spanning genetic discovery, clinical description, immunologic assessment, diagnostic approaches, prognosis evaluation, and treatment interventions. Case reports are considered if they are genuinely original and accompanied by a concise review of the relevant medical literature, illustrating how the novel case study advances the field. The instructions to authors provide detailed guidance on the four categories of papers accepted by the journal.