Table 1. Molecular characterization of... | Rockefeller University Press

Table 1.

Molecular characterization of two siblings with DCLRE1C variants


Age at diagnosis–years	28	25
Sex	Sister	Brother
Clinical diagnosis	CID–leaky SCID
Genetic variant	Compound heterozygous: Gene: DCLRE1C (Artemis) Refseq: NM_001033855.3 Variant 1 (maternal): Missense variant. c.58 G>C, p.Asp20His Variant 2 (paternal): NC_000010.10:g(?14984299)(15062294?)del Deletion of around 80 kb, which includes exons 1–3 in DCLRE1C ACMG classification: 5
Malignancy	Cervical carcinoma in situ	Aggressive B cell lymphoma


Age at diagnosis–years	28	25
Sex	Sister	Brother
Clinical diagnosis	CID–leaky SCID
Genetic variant	Compound heterozygous: Gene: DCLRE1C (Artemis) Refseq: NM_001033855.3 Variant 1 (maternal): Missense variant. c.58 G>C, p.Asp20His Variant 2 (paternal): NC_000010.10:g(?14984299)(15062294?)del Deletion of around 80 kb, which includes exons 1–3 in DCLRE1C ACMG classification: 5
Malignancy	Cervical carcinoma in situ	Aggressive B cell lymphoma

Immunological profile	Sister	Brother	Unit	Ref. interval
CD3⁺ (T cells)	0.52^{^*}	0.11^{^*}	×10⁹/L	0.65–1.57
CD19⁺ (B cells)	0.01^{^*}	<0.01^{^*}	×10⁹/L	0.08–0.28
CD16⁺/56⁺ CD3⁻(NK cells)	0.17	0.62^{^*}	×10⁹/L	0.1–0.35
CD3⁺CD4⁺ (Th cells)	0.46^{^*}	0.07^{^*}	×10⁹/L	0.49–1.34
CD3⁺CD4⁺ (Tc cells)	0.06^{^*}	0.02^{^*}	×10⁹/L	0.19–0.8
CD4⁺/CD8⁺ ratio	7.58^{^*}	3.31		1.13–3.93
Regulatory T lymphocytes
CD4⁺CD25⁺CD127⁻	2^{^*}		%	5–11
Extended T cell panel—reference range based on healthy blood donors aged 18–65 years
Subtypes of CD4⁺ T cells
CD4⁺/CD3⁺	85^{^*}	67	%	44–79
CD4⁺naive (CD45RA⁺CCR7⁺)	1^{^*}	<0.5^{^*}	%	22–62
CD4⁺EM (CD45RA⁻CCR7⁻)	8^{^*}	56^{^*}	%	10–47
CD4⁺CM (CD45RA⁻CCR7⁺)	91^{^*}	43	%	14–48
CD4⁺EMRA (CD45RA⁺CCR7⁻)	<0.5^{^*}	<0.5^{^*}	%	1–9
Th1 (CXCR3⁺CCR6⁻)/CD4⁺EM	26	25	%	22–52
Th2 (CXCR3⁻CCR6⁻)/CD4⁺EM	7	6	%	4–27
Th17 (CXCR3⁻CCR6⁺)/CD4⁺EM	16	38^{^*}	%	8–28
Th1 (CXCR3⁺CCR6⁻)/CD4⁺CM	5^{^*}	13	%	13–30
Th2 (CXCR3⁻CCR6⁻)/CD4⁺CM	2^{^*}	2^{^*}	%	14–53
Th17 (CXCR3⁻CCR6⁺)/CD4⁺CM	21	43^{^*}	%	20–37
Subtypes of CD8⁺ T cells
CD8⁺/CD3⁺	11^{^*}	16^{^*}	%	17–47
CD8⁺ naive (CD45RA⁺CCR7⁺)	2^{^*}	Not measurable	%	10–65
CD8⁺ EM (CD45RA⁻CCR7⁻)	49^{^*}	Not measurable	%	4–30
CD8⁺ CM (CD45RA⁻CCR7⁺)	47^{^*}	Not measurable	%	1–12
CD8⁺ EMRA (CD45RA⁺CCR7⁻)	2^{^*}	Not measurable	%	18–68
Activated T cells
CD4⁺HLA-DR⁺CD38⁻	4	7	%	2–11
CD4⁺HLA-DR⁺CD38⁺	2	23^{^*}	%	≤2
CD8⁺HLA-DR⁺CD38⁻	3	Not measurable	%	2–22
CD8⁺ HLA-DR⁺CD38⁺	3	Not measurable	%	1–5
B lymphocyte subpopulations: Too few B lymphocytes to perform the analysis

Immunological profile	Sister	Brother	Unit	Ref. interval
CD3⁺ (T cells)	0.52^{^*}	0.11^{^*}	×10⁹/L	0.65–1.57
CD19⁺ (B cells)	0.01^{^*}	<0.01^{^*}	×10⁹/L	0.08–0.28
CD16⁺/56⁺ CD3⁻(NK cells)	0.17	0.62^{^*}	×10⁹/L	0.1–0.35
CD3⁺CD4⁺ (Th cells)	0.46^{^*}	0.07^{^*}	×10⁹/L	0.49–1.34
CD3⁺CD4⁺ (Tc cells)	0.06^{^*}	0.02^{^*}	×10⁹/L	0.19–0.8
CD4⁺/CD8⁺ ratio	7.58^{^*}	3.31		1.13–3.93
Regulatory T lymphocytes
CD4⁺CD25⁺CD127⁻	2^{^*}		%	5–11
Extended T cell panel—reference range based on healthy blood donors aged 18–65 years
Subtypes of CD4⁺ T cells
CD4⁺/CD3⁺	85^{^*}	67	%	44–79
CD4⁺naive (CD45RA⁺CCR7⁺)	1^{^*}	<0.5^{^*}	%	22–62
CD4⁺EM (CD45RA⁻CCR7⁻)	8^{^*}	56^{^*}	%	10–47
CD4⁺CM (CD45RA⁻CCR7⁺)	91^{^*}	43	%	14–48
CD4⁺EMRA (CD45RA⁺CCR7⁻)	<0.5^{^*}	<0.5^{^*}	%	1–9
Th1 (CXCR3⁺CCR6⁻)/CD4⁺EM	26	25	%	22–52
Th2 (CXCR3⁻CCR6⁻)/CD4⁺EM	7	6	%	4–27
Th17 (CXCR3⁻CCR6⁺)/CD4⁺EM	16	38^{^*}	%	8–28
Th1 (CXCR3⁺CCR6⁻)/CD4⁺CM	5^{^*}	13	%	13–30
Th2 (CXCR3⁻CCR6⁻)/CD4⁺CM	2^{^*}	2^{^*}	%	14–53
Th17 (CXCR3⁻CCR6⁺)/CD4⁺CM	21	43^{^*}	%	20–37
Subtypes of CD8⁺ T cells
CD8⁺/CD3⁺	11^{^*}	16^{^*}	%	17–47
CD8⁺ naive (CD45RA⁺CCR7⁺)	2^{^*}	Not measurable	%	10–65
CD8⁺ EM (CD45RA⁻CCR7⁻)	49^{^*}	Not measurable	%	4–30
CD8⁺ CM (CD45RA⁻CCR7⁺)	47^{^*}	Not measurable	%	1–12
CD8⁺ EMRA (CD45RA⁺CCR7⁻)	2^{^*}	Not measurable	%	18–68
Activated T cells
CD4⁺HLA-DR⁺CD38⁻	4	7	%	2–11
CD4⁺HLA-DR⁺CD38⁺	2	23^{^*}	%	≤2
CD8⁺HLA-DR⁺CD38⁻	3	Not measurable	%	2–22
CD8⁺ HLA-DR⁺CD38⁺	3	Not measurable	%	1–5
B lymphocyte subpopulations: Too few B lymphocytes to perform the analysis

CD, cluster of differentiation; EM, effector memory; CM, central memory; EMRA, effector memory expressing CD45RA; Th, T helper cell; Tc, cytotoxic T cell; IgD, immunoglobulin D; IgM, immunoglobulin M.

Indicates values outside the reference interval (also indicated in bold).

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