Introduction
Patient 1 ♀ 12 years [8] | Patient 2 ♂ 12 years [9] | Patient 3 ♂ 4 years [10] | Patient 4 ♂ 5 years [10] | Patient 5 ♂ 34 years [11] | Patient 6 ♀ 45 years [12] | |
---|---|---|---|---|---|---|
Clinical features | Recurrent respiratory tract infections | Chronic diarrhea, recurrent respiratory tract infections | Recurrent respiratory tract infections, otitis media, sinusitis | Enterobacter Cloacae mediastinitis, Klebsiella tracheitis, CNS bacteremia | Increased incidence of viral and bacterial infections | Recurrent pneumococcal pneumoniae, genital and cutaneous condylomata |
IgG | 5,4 g/L (normal) |
2,26 g/l (low) |
2,81 g/l (low) |
1,61 g/l (low) | Not performed |
3,4 g/l (low) |
IgA |
0,28 g/L (low) |
0,31 g/l (low) |
0,17 g/l (low) |
0,19 g/l (low) | Not performed | 0,66 g/l (normal) |
IgM |
0,15 g/L (low) |
0,06 g/l (low) |
0,15 g/l (low) |
0,25 g/l (low) |
0,35 g/l (low) |
0,40 g/l, (low) |
Specific antibody titers against S. pneumoniae | Not performed |
Low
|
Low
|
Absent
| Not performed |
Low
|
Specific antibody titers against H. influenzae | Not performed |
Low
| Present | Not performed | Not performed | Not performed |
Antibody response upon vaccination with polysacharide vaccine against S. pneumoniae | Not performed |
Decreased
|
Decreased
| Vaccinated, but no response measured | Not performed |
Decreased
|
Antibody response upon vaccination with polysacharide-protein conjugate vaccine against H. Influenzae | Not performed |
Decreased
| Not performed | Not performed | Not performed | Not performed |
Other laboratory findings | Lymphopenia, thrombocytopenia | Normal total numbers of B- and T-cells | Lymphopenia | Thrombocytopenia, CD4+ T-cell penia, disturbed lymphocyte response to mitogens | Thrombocytopenia, lymphopenia (low B-cells, CD4+ T-cells, switched memory and marginal zone B-cells) |
Material and Methods
Patients
Patient number | Age (years) | Gender | Genetic abnormalities | Clinical findings |
---|---|---|---|---|
1 | 24 | M | 11q- (45, x, ish der) (11) t (y;11) (p11.2;q24.1) (wcpyt)2 | Recurrent otitis, sinusitis, upper and lower respiratory tract infections |
2 | 35 | F | Deletion 11q (q23.3 – qter) | No recurrent infections |
3 | 14 | F | Deletion 11q (q.24.1-qter) | Recurrent otitis, upper and lower respiratory tract infections |
4 | 14 | M | Deletion 11q 14.2 – 11q 22.2 | Recurrent upper and lower respiratory tract infections |
5 | 6 | F | Deletion 11q (q23.3 – qter) | Recurrent otitis, sinusitis, upper and lower respiratory tract infections |
6 | 10 | F | Deletion 11q (q23.3 – qter) | Recurrent otitis, sinusitis, upper and lower respiratory tract infections |
Medical History
Blood Analysis
Vaccination Response
Results
Clinical Evaluation
Initial Evaluation of the Immune System
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | |
---|---|---|---|---|---|---|
IgG (g/l) |
5,8
|
7,5
|
5,2
|
3,1
|
3,2
|
3,5
|
IgA (g/l) |
0,45
|
1,89
|
0,65
|
0,30
|
0,88
|
0,61
|
IgM (g/l) |
<0,30
|
<0,30
|
0,97
|
<0,30
|
0,17
|
<0,30
|
Total number of B-cells (× 109 / l) |
0,10
|
0,05
|
0,22
|
0,16
|
0,09
|
0,07
|
Total number of T-cells (× 109 / l) |
0,82
|
0,64
|
1,38
|
1,18
|
0,77
|
0,48
|
Total number of NK-cells (× 109 / l) |
0,04
|
0,08
|
0,23
|
0,18
|
0,04
|
0,04
|
Specific antibody titers against S. pneumoniae |
Low
|
Normal
|
Low
|
Low
|
Low
|
Low
|
Antibody response upon vaccination with polysacharide vaccin against S. pneumoniae |
Decreased
|
Not performed
|
Decreased
|
Decreased
|
Decreased
|
Decresed
|
Specific Antibody Titres
B Lymphocyte Subset Analysis
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | |
---|---|---|---|---|---|---|
Total number of cells, (normal values adjusted for age) | Total number of cells, (normal values adjusted for age) | Total number of cells, (normal values adjusted for age) | Total number of cells, (normal values adjusted for age) | Total number of cells, (normal values adjusted for age) | Total number of cells, (normal values adjusted for age) | |
B-lymphocyte subsets (cells/μl) | ||||||
Transitional B-cells (CD38high/CD24high) | 11, (3–50) | 6, (3–50) | 33, (4–108) | 24, (4–108) |
10, (11–77) | 24, (11–77) |
Naive mature B-cells (CD38dim/CD24dim/IgD+/CD27-) | 69, (57–447) | 33, (57–447) | 96, (87–390) | 114, (87–390) |
69, (111–486) |
39, (111–486) |
Marginal zone/Natural effector B-cells (CD38dim/IgD+/CD27+) |
8, (9–88) |
2, (9–88) | 62, (7–90) | 12, (7–90) |
3, (15–88) |
1, (15–88) |
Memory B-cells (CD38dim/IgD-/CD27+) |
2, (13–122) |
2, (13–122) | 17, (10–76) |
4, (10–76) |
5, (13–100) |
1, (13–100) |
T-lymphocyte subsets (× 109/L) | ||||||
CD4+ T-lymphocytes |
0,2 (0.3–1.4) | 0,5 (0.3–1.4) | 0,9 (0.4–2.1) | 0,7 (0.4–2.1) | 0,4 (0.3–2.0) | 0,3 (0.3–2.0) |
CD8+ T-lymphocytes | 0,6 (0.2–1.2) |
0,1 (0.2–1.2) | 0,4 (0.2–1.2) | 0,4 (0.2–1.2) | 0,3 (0.3–1.8) |
0,2 (0.3–1.8) |