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Table 1 Laboratory test results

From: Rare and heterogeneous manifestations of leucocyte adhesion deficiency type 1: report of two cases with diagnostic dilemmas and novel ITGB2 mutation

Age: four months

Hematological Parameter

Reference ranges

Hemoglobin level

8.6 g/dl

11.1–16.3 g/dl

Total Leucocyte Count

119 x 103 cells/µl

4–10 x 103 cells/µl

Neutrophils

82% (97.5 103/ µl)

40–80% (2–7 x 103 cells/µl)

Lymphocytes

11% (13.1 103/ µl)

20–40% (1–3 x 103 cells/µl)

Monocytes

7% (8.3103/ µl)

2–10% (0.2-1 103 cells/µl)

Platelets

94 x 103/ µl

150-410x 103 cells/µl

Peripheral film:

Normochromic, leukocytosis with predominant neutrophilia

Normochromic, Normocytic

Blood group:

B Positive

 

Immunological Work-up

Reference range

Serum Immunoglobulins (Ig)

  

IgG

10.5

2.3 to 14.1 g/l

IgA

1.19

0-0.83 g/l

IgM

2.00

0-1.45 g/l

IgE

272

< 100 IU/ml

Neutrophil Function test:

 

NBT1 slide test

No abnormality detected

Dihydrorhodamine (DHR) Test

Stimulation Index (SI) = 400 (Control = 200)

Lymphocyte subset analysis:

% Ratio

Cells/µl

% Ratio

Cells/µl

Total CD3+ T cells

72

8251

57 to 81

1000 to 4900

CD3+CD4+ (helper) T cells

46

5272

24 to 47

500 to 2700

CD3+CD8+ (cytotoxic) T cells

27

3094

17 to 37

300 to 2100

CD16+56+ (NK2) cells

14

1604

8 to 28

200 to 900

CD 19+ (B) cells

14

1604

10 to 27

200 to 2200

Flow cytometric analysis for CD11/CD18

expression of CD11b, CD11c, and CD18 was less than 1% on the patient’s neutrophils.

Other tests:

  

C-reactive Protein-H (CRP-H)

35 mg/dl

< 0.744 mg/dl

Anti-HIV3-IgG

Negative

Negative

Anti-HCV4-IgG

Negative

Negative

Mutation analysis for beta 2 integrin gene

Homozygous variant in ITGB2 (c.817G > A) gene, reported being pathogenic according to HGMD-public database.

a. Case 1