Table 3.

Immunological features of the four patients with homozygous CARMIL2 mutation

Flow cytometry	Reference values	Patient 1	Patient 2	Patient 3	Patient 4
CD3 (cells/μL)	800–2400	1649	3972	2020	1743
CD8 (cells/μL)	200–1000	495	464	310	248
CD4 (cells/μL)	500–1400	1046	3497	1659	1402
CD16 (cells/μL)	100–400	474	89	140	168
CD19 (cells/μL)	100–500	572	440	411	348
CD4+memory (%)	41–84	35	23	22	28
CD4+follicular‐like (%)	6,2–18	2.4	1.1	1.9	1.2
CD4+ naive (%)	25–71	83	94	92	93
RTE (%)	28–72	47	56	50	57
CD8+naïve (%)	34–87	72	32	82	62
CD8+ early effector/ memory (%)	2.9–16	22	10	10	11
CD8+ late effector/ memory (%)	2.6–58	6	57	6	26
TReg (CD25++, CD127−) (%)	2.5–5.8	0.5	2.4	0.5	0.8
TReg (FoxP3) (%)	2.1–7.4	0.7	1.3	0.3	0.2
Naive B cells (%)	48–83	95	83	97	90
IgM‐memory B cells (%)	3.3–22	2.5	6.1	1.6	5.3
Class‐switched B cells	4.3–23	1.9	5.5	1	3.8
Transitional B cells (%)	0.6–4.6	4	1	7.7	14.4
Plasmablasts (%)	0.3–5.1	0.1	0.4	0.1	0.1
CD21 low B cells (%)	1.2–9.4	0.9	1.7	0.6	0.2
Th17 (%)	>0.6%	1.43	0.05	0.4	0.54
CD4+ IFNγ + (%)	>5%	5.2	1.35	1.8	3.3
CD8+ IFNγ + (%)	>14%	14.7	35	10	18
CD56+ IFNγ + (%)	>49%	62	33	21	22

Deviations from reference values are colored by: red (reduced levels), orange (level borderline deviation), and blue (increased levels).

RTE, Recent thymic emigrants.