. 2019 Aug 13;10:1908. doi: 10.3389/fimmu.2019.01908

Table 4.

SCID patients with known gene defect and discordant immunophenotype.

Gene defect	Expected phenotype	Observed phenotype	No.	% of the genotype subgroup	OS/ME
Typical			5
IL2RG	T⁻B⁺NK⁻	T⁻B⁺NK⁺	1	12.5	0/0
		T⁻B^lowNK⁺	1	12.5	0/0
RAG1/2	T⁻B⁺NK⁺	T⁻B⁻NK⁺	1	14	0/1
ADA	T⁻B⁻NK⁻	T⁻B⁺NK⁺	1	8	0/0
MHC class II-D^*	T⁺B⁺NK⁺	T⁻B^lowNK⁺	1	100	0/0
Atypical			31
IL2RG	T⁻B⁺NK⁻	T^lowB⁺NK⁺	6	31.5	0/1
		T⁺B⁺NK⁺	3	16	1/1
		T^lowB⁺NK^low	1	5	0/0
JAK3	T⁻B⁺NK⁻	T^lowB⁺NK⁻	1	14	0/0
		T^lowB⁺NK⁺	1	14	0/0
RAG1/2	T⁻B⁺NK⁺	T⁺B⁻NK⁺	7	35	3/0
		T^lowB⁺NK⁻	2	10	1/1
		T⁺B⁺NK⁺	3	15	1/0
		T^lowB⁻NK⁻	1	5	1/0
MHC class II-D^*	T⁺B⁺NK⁺	T^lowB⁺NK⁺	3	75	0/0
IKBA	T⁺B⁺NK⁺	T⁺B⁺NK⁻	1	100	0/0
Cernunnos	T⁻B⁻NK⁺	T^lowB⁻NK⁺	1	100	1/0
RFX5	T⁺B⁺NK⁺	T^lowB⁺NK^?	1	100	0/0
DCLER1C	T⁻B⁻NK⁺	T⁺B^lowNK⁻	1	100	0/0
LIG4	T⁻B⁻NK⁺	T^lowB^lowNK⁺	1	50	0/0
CIITA	T⁻B⁺NK⁺	T⁺B⁺NK⁺	1	100	0/0
Del14	T⁻B⁺NK⁺	T^lowB⁻NK⁺	1	100	0/0

Major histocompatibility complex (MHC) class II Deficiency. OS, Omenn syndrome; ME, Maternal Engraftment.