. Author manuscript; available in PMC: 2020 Jan 1.

Published in final edited form as: Immunol Rev. 2019 Jan;287(1):73–90. doi: 10.1111/imr.12713

Table 1.

Features of mouse models of RAG deficiency

Mouse model	Phenotype	T cells	B cells	Ab Response and BAFF levels	Equivalent human phenotype	Reference
Core Rag2 knock in	Not described	Low number of T cells Block at DN3 stage Reduced % of γδ⁺ cells	Low B cell count. Reduction of pre-B and IgM⁺ B cells	No description		95
Core Rag2 mouse	Not described	Low number of T cells. Block at DN3 stage Reduced % of γδ⁺ cells	Low B cell count Reduction of pre-B and IgM⁺ B cells	No description		96
Rag1^R972Q/R972Q (MM)	Red skin but no cellular infiltrates Hepatosplenomegaly Eosinophilia	Reduced, oligoclonal, activated T cells Increased % of memory T cells	Low B cell counts Elevated IgM, IgG, IgE. Enlarged germinal centers	Normal response to TD- and TI-Ag	AS	99
Rag1^S723C/S723C (mut/mut)	No alopecia No erythroderma No splenomegaly No hepatomegaly No eosinophilia	Reduced, oligoclonal, activated T cells Reduced % of γδ⁺ cells Reduced NKT cells	Low B cell count Low IgA, normal to elevated IgE	Defective response to TD- and TI-Ag Anti-ssDNA and anti-chromatin antibodies Elevated BAFF levels	AS	100–102
Rag1^R972W/R972W	Occasional splenomegaly T cell infiltrates in various organs	Very low T cell count, with oligoclonal, activated T cells	Very low B cell count Decreased % of Igλ⁺ B cells Elevated IgE Very few B cell follicles	Defective response to TD- and TI-Ag Very high serum BAFF	AS	91
Rag1^F971L/R971L	No signs of OS	Very low T cell count, but presence of a sizeable % of naïve T cells Increased % of γδ⁺ cells	Very low B cell count Decreased % of Igλ⁺ B cells Few B cell follicles	Defective response to TD-Ag, but normal response to TI-Ag High serum BAFF levels	CID	91
Rag1^R972Q/R972Q	No signs of OS	Low T cell count, but presence of a sizeable % of naïve T cells Increased % of γδ⁺ cells	Low B cell count Decreased % of Igλ⁺ B cells Elevated IgM Presence of B cell follicles	Defective response to TD-Ag, but normal response to TI-Ag Modestly increased serum BAFF levels Increased proportion of ABC cells High levels of IgM autoAb	CID-G/AI	91
Rag2^R229Q/R229Q	Erythroderma Alopecia Hepatosplenomegaly Eosinophilia Colitis	Very low T cell count, with oligoclonal, activated T cells No NKT cells	Barely detectable B cells. Low IgG, low IgM, elevated IgE Barely detectable B cell follicles	Defective response to TD- and TI-Ag High serum BAFF levels Increased IgM and IgG high-affinity autoAb	OS	90

Ab: antibody; ABC: Age-associated B cells; AS: atypical SCID; BAFF: B cell activating factor; BM: bone marrow; CID: combined immune deficiency; CID-G/AI: combined immune deficiency with granulomas and/or autoimmunity; DN3: double-negative 3; NKT: natural killer T cells; OS: Omenn syndrome; SCID: severe combined immune deficiency; TD: T-dependent; TI: T-independent