AI Article Synopsis
- - Severe combined immunodeficiency (SCID) is a serious genetic disorder affecting the immune system, leading to critical infections, with variances in disease presentation complicating timely diagnosis.
- - A study described four patients, including both typical and atypical SCID cases, who showed symptoms within six months of birth with various genetic mutations identified, such as in the RAG2, IL7R, ADA, JAK3, LIG4, and LAT genes.
- - The findings provide insights into the genetic diversity of SCID and emphasize the importance of early diagnosis and management for affected individuals, including the confirmation of mutations through Sanger sequencing in both patients and their parents.
Article Abstract
Severe combined immunodeficiency (SCID) is one of the severe inborn errors of the immune system associated with life-threatening infections. Variations in SCID phenotypes, especially atypical SCID, may cause a significant delay in diagnosis. Therefore, SCID patients need to receive an early diagnosis. Here, we describe the clinical manifestations and genetic results of four SCID and atypical SCID patients. All patients (4 males and 4 females) in early infancy presented with SCID phenotypes within 6 months of birth. The mutations include RAG2 (p.I273T,p.G44X), IL7R (p.F361WfsTer17), ADA (c.780+1G>A), JAK3 (p.Q228Ter), LIG4 (p.G428R), and LAT (p.Y207fsTer33), as well as a previously reported missense mutation in RAG1 (p.A444V). The second report of LAT deficiency in SCID patients is presented in this study. Moreover, all variants were confirmed in patients and their parents as a heterozygous state by Sanger sequencing. The results of our study expand the clinical and molecular spectrum associated with SCID and leaky SCID phenotypes and provide valuable information for the clinical management of the patients.
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| http://dx.doi.org/10.1038/s41435-023-00215-w | DOI Listing |
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