Table 3. The same mutation in RAG1 or... | American Society of Hematology

Table 3.

The same mutation in RAG1 or RAG2can cause severe combined immune deficiency or Omenn syndrome

Patients	OS2^3-150	P27	OM3/5	P52	OM9^3-151	P42^3-151
Phenotype	Omenn	SCID	Omenn	SCID	Omenn	SCID
T lymphocyte (/μL)		150	19 500/12 700	150	6300	0
B lymphocyte (/μL)		0	0/0	0	0	0
Mutation	RAG1		RAG1		RAG2
	(R561H)		(ΔT631)		(R39G, R229Q)

Patients	OS2^3-150	P27	OM3/5	P52	OM9^3-151	P42^3-151
Phenotype	Omenn	SCID	Omenn	SCID	Omenn	SCID
T lymphocyte (/μL)		150	19 500/12 700	150	6300	0
B lymphocyte (/μL)		0	0/0	0	0	0
Mutation	RAG1		RAG1		RAG2
	(R561H)		(ΔT631)		(R39G, R229Q)

OS indicates Omenn syndrome; SCID, severe combined immune deficiency.

OS2 was described in Villa and colleagues.38

OM9 and P42 are two previously described siblings presenting OS and SCID conditions, respectively.27