Table 4. Summary of RAG gene mutations,... | American Society of Hematology

Table 4.

Summary of RAG gene mutations, their recombination activity, and effects on the in vivo lymphoid compartment

Gene	Mutation	Recombination activity	Diagnosis^4-150	Lymphoid compartment
				Precursor B cells in BM		Immunogenotype
				Relative size	Differentiation arrest	Immunogenotype
RAG1	N-terminal truncation	Strongly decreased	OS in SCID-1	< 2%	Not evaluable	Oligoclonal T cells
	Arg249His	Normal (polymorphism)
	Arg404Gln	Absent	T⁻B⁻in SCID-7	No BM available		No Ig rearrangements^4-151
	Lys820Arg	Normal (polymorphism)
RAG2	Gln16 stop	Absent	T⁻B⁻ in SCID-6	57%	Absolute arrest	No Ig rearrangements
	Codon 247 stop	Absent	T⁻B⁻ in SCID-2 and -4	5%-57%^‡	Absolute arrest	No Ig rearrangements
	Trp435Arg	Strongly decreased^4-153	OS in SCID-5	< 2%	Not evaluable	Oligoclonal T cells
	His481Pro	Strongly decreased	T⁻B⁻ in SCID-3	4%	Leakiness	IGH/IGLrearrangements

Gene	Mutation	Recombination activity	Diagnosis^4-150	Lymphoid compartment
				Precursor B cells in BM		Immunogenotype
				Relative size	Differentiation arrest	Immunogenotype
RAG1	N-terminal truncation	Strongly decreased	OS in SCID-1	< 2%	Not evaluable	Oligoclonal T cells
	Arg249His	Normal (polymorphism)
	Arg404Gln	Absent	T⁻B⁻in SCID-7	No BM available		No Ig rearrangements^4-151
	Lys820Arg	Normal (polymorphism)
RAG2	Gln16 stop	Absent	T⁻B⁻ in SCID-6	57%	Absolute arrest	No Ig rearrangements
	Codon 247 stop	Absent	T⁻B⁻ in SCID-2 and -4	5%-57%^‡	Absolute arrest	No Ig rearrangements
	Trp435Arg	Strongly decreased^4-153	OS in SCID-5	< 2%	Not evaluable	Oligoclonal T cells
	His481Pro	Strongly decreased	T⁻B⁻ in SCID-3	4%	Leakiness	IGH/IGLrearrangements

The immunophenotype was obtained from PB.

The immunogenotype in SCID-7 was detected in EBV-transformed B-cell lines.

5% within lymphocyte gate in SCID-2.1, 57% in SCID-2.2, and 47% in SCID-4.

The recombination activity in SCID-5 was taken from the literature.42