학술논문

Novel CD3Z and CD3E Deficiency in Two Unrelated Females.
Document Type
Letter
Source
Journal of Clinical Immunology. Jul2021, Vol. 41 Issue 5, p1116-1118. 3p.
Subject
*SEVERE combined immunodeficiency
*SINGLE nucleotide polymorphisms
*RESPIRATORY infections
Language
ISSN
0271-9142
Abstract
To the Editor: The multimeric T cell receptor (TCR) complex consists of clonotypic TCR or heterodimers and CD3 , CD3 , CD3 , and CD3 invariant chains. These patients usually present in early infancy with severe infections, though patients with CD3 deficiency have a delayed onset and may present with autoimmunity [[2]]. Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3 deficiency: need for IgG-substitution 6 years later. The patient was started on anti-bacterial and anti-viral prophylaxis but succumbed to respiratory distress post pneumonia before hematopoietic stem cell transplantation could be done. [Extracted from the article]