Abstract
Objectives
Severe combined immunodeficiency (SCID) represents one of the most severe forms of Primary immunodeficiency (PID) disorders, characterized by T cell lymphopenia (TCL) and lack of cellular and humoral immune responses. However, not all patients with low T cell lymphocyte counts may have an abnormal T cell immunity and the observed TCL may be a temporary suppression resulting from transient lymphopenia secondary to severe infections. In such cases, it is necessary to estimate the severity of the observed TCL by assessing thymic capabilities.
Methods
In this study, patients clinically suspected of SCID were evaluated for lymphocyte subsets analysis, naïve T cells and T cell receptor excision circles (TREC).
Results
Patients with transient lymphopenia had detectable TREC levels and normal naïve T cells subsets. Normalization of absolute lymphocyte counts, and T cells was seen in the patients after a short duration.
Conclusions
The authors highlight the importance of detailed immunological investigations in an infant with severe infections and lymphopenia before labeling the infant as SCID.
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Acknowledgments
The authors thank Dr. Daniel Douek, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, USA, for providing the hTREC plasmid for performing the TREC assay.
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JA wrote the manuscript. MRG, AD, SM, MK performed the various laboratory tests. MK, NKS provided clinical care to the patients. MRM supervised the study and will act as guarantor for this paper.
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Aluri, J., Gupta, M.R., Dalvi, A. et al. Lymphopenia and Severe Combined Immunodeficiency (SCID) - Think Before You Ink. Indian J Pediatr 86, 584–589 (2019). https://doi.org/10.1007/s12098-019-02904-9
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DOI: https://doi.org/10.1007/s12098-019-02904-9