Severe Combined Immunodeficiency

Shigeaki Nonoyama and Jun-ichi Yata, Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan

Severe combined immunodeficiency (SCID) is the most devastating form of the human primary immunodeficiencies, characterized by the absence of both cellular and humoral immunity. Although the phenotype is similar, genetical heterogeneity has been observed in the group of patients and several genes causing SCID have recently been identified.

The mode of inheritance may be X-linked recessive (X-SCID) or autosomal recessive (AR-SCID). X-SCID is caused by mutations of the IL-2Ry chain (common y chain, yc). AR-SCID are reported to be caused by mutations of various genes, including JAK3, RAG-l/RAG-2, adenosine deaminase (ADA) and purine nucleotide phosphorylase (PNP). In addition, HLA class II deficiency causcd by the defects of trans-acting regulatory molecules for the expression of class II, and T cell receptor-CD3 signaling deficiency caused by defective CD3y, CD3e, and ZAP-70, are also included in the category of AR-SCID. The approximate percentages of SCID categories classified on the basis of genetic etiology are shown in Figure 1.

In this article, we give an overview of the general symptoms and treatment of human SCID, and describe the various SCID entities on the basis of the responsible genes. In addition, we will briefly discuss mice with the SCID phenotype, including spontaneously derived SCID mice, RAG-l/RAG-2 targeted mice, JAK3 targeted mice, and common 7 chain targeted mice.

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