OMENN SYNDROME ASSOCIATED WITH DNA LIGASE 1

D. Matrana, E. Smith, M. Marble, L. Tran, H. Meddaugh, A. Heifner, A. McKernan,L. Wall

ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY（2021）

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摘要

Pathogenic variants in LIG1, which encodes for DNA ligase 1, have recently been reported in only two cases of SCID. We present a patient with Omenn Syndrome (atypical SCID) and two heterozygous variants of uncertain significance in LIG1.

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关键词

Interferon-? Pathway Defects

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