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Table 1 Serum laboratory investigation

From: Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

Exam

Values

Reference range

Hematology

Hemoglobin (g/dL)

8.5

13.2–16.6

Hematocrit (%)

27.5

38.3–48.6

Erythrocytes (× 10(12)/L)

2.01

4.35–5.65

MCV (fL)

136.8

78.2–97.9

RBC distrib width (%)

18.8

11.8–14.5

Platelet count (× 10(9)/L)

48

135–317

White blood cell count (× 10(9)/L)

8.5

3.4–9.6

Inflammatory markers

C-reactive protein (MG/DL)

11.6

0.0–0.9

Lactate dehydrogenase (U/L)

230

122–222

Erythrocyte sedimentation rate (mm/hr)

120

0–15

Autoimmune

Soluble interleukin-2 receptor level (unit/mL)

3017

45–1105

dsDNA Ab with reflex, IgG, S (IU/ML)

20.6

 < 30

Antinuclear Ab, S (U)

4.2

 ≤ 1.0

Cyclic citrullinated peptide Ab, S (U)

 < 15.6

 < 15.0

Centromere Ab, IgG, S (U)

 < 0.2

 < 1.0

SS-A/Ro Ab, IgG, S (U)

7.9

 < 1.0

SS-B/La Ab, IgG, S (U)

 < 0.2

 < 1.0

Sm Ab, IgG, S(U)

 < 0.2

 < 1.0

RNP Ab, IgG, S(U)

 < 0.2

 < 1.0

Scl 70 Ab, IgG, S(U)

 < 0.2

 < 1.0

Jo 1 Ab, IgG, S (U)

 < 0.2

 < 1.0

Rheumatoid factor (IU/ML)

 < 15

 < 15

Ribosome P Ab, IgG, S (U)

 < 0.2

 < 1.0

Myeloperoxidase Ab, S (U)

 < 0.2

 < 0.4

Proteinase 3 Ab (PR3) (U):

 < 0.2

 < 0.4

Complement

Complement, total, S (U/ML)

69

30–75

C1 esterase inhib, functional, QN (%)

 > 90

 > 67

Complement C1q, S (MG/DL)

22

12–22

Complement C4, S (MG/DL)

24

14–40

C1 esterase inhibitor antigen, S (MG/DL)

36

19–37

Complement, total, S (U/ML)

69

30–75

Immunoglobulins

Haptoglobin (MG/DL)

228

30–200

Immunoglobulin A (IgA) (MG/DL)

157

61–356

Immunoglobulin E (IgE) (KU/L)

3.4

 ≤ 214

Immunoglobulin G (IgG) (MG/DL)

976

767–1590

Immunoglobulin M (IgM) (MG/DL)

47

37–286

Immunoglobulin Subclass IgG4 (MG/DL)

9.3

2.4–121

Miscellaneous

Carcinoembryonic Ag (CEA) (NG/ML)

1.2

 

Carbohydrate Ag 19–9, S (U/ML)**

1288

 < 35

Methylmalonic acid, quantitative (NMOL/ML)

0.26

 ≤ 0.40

PNH RBC-partial Ag loss (%)

0.0

0.00–0.99

PNH RBC-complete Ag loss (%)

0.0

0.00–0.01

  1. Abnormal results are shown in bold.
  2. ** The Ca19-9 was ordered to further evaluate pancreatic cysts found in his abdominal CT scam in the previous year. Whole body PET was normal