A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections

Table 1

Investigations in peripheral blood.

General investigations	Results	Interpretation
Hemoglobin	7.5–7.9 mmol/L	Low to normal
Neutrophils	1.3–5.3 × 10^9/L	Intermittently low
Lymphocytes	1.6–3.2 × 10^9/L	Low
ACE	73 U/mL	Mildly elevated
ANCA	Negative	Normal
ANA	Negative	Normal
TPO-antibodies	Negative	Normal
Thyreoglobulin antibodies	Negative	Normal
Serology rubella	IgG pos, IgM neg	Normal after vaccination
Serology CMV	IgG and IgM neg	No exposure
Serology EBV	IgG and IgM neg	No exposure
Serology HIV	Negative	No exposure
Serology parvovirus	IgG and IgM neg	No exposure
Serology bartonella henselae	IgM negative	No recent exposure
Serology toxoplasma gondii	IgG and IgM neg	No exposure
PCR blood CMV	Negative	No recent exposure
PCR blood EBV	Negative	No recent exposure
Antibody response to diphtheria and tetanus toxoid antigens	>4-fold increase in titer	Normal
Antibody response to pneumococcal polysaccharides	2-fold increase in titer	Weak response
Mantoux	Negative	Normal
M-proteins	Negative	Normal
IgM (age 7 years)	1.03 g/L	Normal
IgA (age 7 years)	0.19 g/L	Low
IgG (age 7 years)	13.4 g/L	Mildly elevated
IgG1 (age 7 years)	11.6 g/L	Mildly elevated
IgG2 (age 7 years)	0.92 g/L	Normal
IgG3 (age 7 years)	1.55 g/L	Mildly elevated
IgG4 (age 7 years)	0.058	Normal
Blood lymphocyte subpopulations	Absolutecount^∗	Age-matchedreference^∗∗
Leucocytes	4.6	9.3 (4.5–14)
Lymphocytes	1.94	2.4 (1.2–4.7)
T-lymphocytes (T) (CD3^+)	1.01	1.80 (0.77–4.0)
Double negative TCR𝛼𝛽^+ T (CD3^+TCR𝛼𝛽^+CD4^−CD8^−)	0.08	0.03 (0.01–0.1)
Helper-T-lymphocytes (Th) (CD3^+CD4^+)	0.58	0.91 (0.36–2.80)
Th naive (CD3^+CD4^+CD45RA^+CD27^+)	0.11	0.70 (0.20–2.50)
Th terminally differentiated (CD3^+CD4^+CD45RA^+CD27^−)	0	0.00 (0.00–0.03)
Th central memory (CD3^+CD4^+CD45RA^−CD27^+)	0.45	0.18 (0.00–0.51)
Th effector memory (CD3^+CD4^+CD45RA^−CD27^−)	0.02	0.02 (0.00–0.17)
Cytotoxic T-lymphocytes (Tc) (CD3^+CD8^+)	0.19	0.60 (0.20–1.70)
Tc naive (CD8^+CD45RA^+CD197^+CD27^+)	0.09	0.24 (0.04–1.30)
Tc terminally differentiated (CD8^+CD45RA^+CD197^−CD27^−)	0	0.14 (0.06–0.34)
Tc central memory (CD8^+CD45RA^−CD197^+CD27^+)	0.08	0.02 (0.01–0.04)
Tc effector memory (CD8^+CD45RA^−CD197^−CD27^−)	0.2	0.14 (0.05–0.41)
Recent thymic emigrants (CD3^+CD4^+CD45RA^+CD31^+)	0.1	0.59 (0.20–1.70)
Regulatory T (CD3^+CD4^+CD25^++CD127^−)	0	0.07 (0.02–0.27)
B-lymphocytes (B) (CD19^+)	0.45	0.29 (0.10–0.80)
Naive B (CD19^+CD27^−IgM^+IgD^+)	0.37	0.21 (0.07–0.63)
Natural effector B (CD19^+CD27^+IgM^+IgD^+)	0.06	0.03 (0.01–0.09)
Switched memory B (CD19^+CD27^+IgM^−IgD^−)	0.01	0.02 (0.01–0.05)
Transitional B (CD19^+CD38^++IgM^++)	0.01	0.03 (0.01–0.07)
CD5^+ B (CD19^+CD5^+)	0.11	0.09 (0.02–0.46)
CD10^+ B (CD19^+CD10^+)	0.08	0.05 (0.01–0.21)
NK-cells (CD3^−/CD16 and/or 56^+ cells)	0.14	0.20 (0.07–0.59)
	Ratio	Age-matchedreference^∗∗
TCR-𝛼𝛽/TCR-𝛾𝛿	32.7	9.4
Th/Tc	3.1	1.7
𝜅/𝜆	1.14	1.5
	Percentage	Reference
TACI^+ cells	10.6	2.6 (1–12.6)***
BAFF-R^+ cells	99.5	>95****

All investigations were performed at the age of 5 years, unless otherwise stated. ACE: angiotensin converting enzyme; ANCA: antineutrophil cytoplasmic antibody; ANA: antinuclear antibody; BAFF: B-cell activating factor; CMV: cytomegalovirus; EBV: epstein-barr virus; HIV: human immunodeficiency virus; Ig: immunoglobulin; neg: negative; NK: Natural Killer; R: receptor; pos: positive; SD: standard deviation; TACI: transmembrane activator and calcium-modulator and cyclophilin ligand interactor; Tc: T-cytotoxic; TCR: T-cell receptor; Th: T-helper; TPO-antibodies: thyroid peroxidase antibody. *×10⁹/L, values in bold represent values that fall outside of the normal range. **Mean, 90% range. ***Mean; total range. ****Total range. For T-lymphocyte reference values see [3], for B-lymphocyte reference values see [2].