Skip to main content

Table 2 Immunologic studies

From: Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report

Age Study Result Notes
3 years
9 months
Complete blood count and differential WBC— 19.2 TH/μL (high)
Hgb— 11.0 g/dL (low)
Platelets— 8 TH/μL (low)
Neutrophils— 48%
Lymphocytes— 35%
Bands— 1%
Monocytes— 1%
Eosinophils— 2%
Absolute neutrophil count— 9408 μL (high)
Laboratory evaluation for immune thrombocytopenic purpura
Immunoglobulins IgG— 1293 mg/dL (high)
IgM— 206 mg/dL (high)
IgA— 130 mg/dL
 
Peripheral blood smear Severe thrombocytopenia
Reactive leukocytosis with neutrophilia
Slight anemia
No circulating blasts
 
4 years
0 months
Chronic urticaria panel Thyroid peroxidase antibody— 3 IU/mL
Thyroglobulin antibody— 75 IU/mL (high)
TSH— 4.95 mIU/L (high)
Histamine release- > 100% (high)
 
Complements C3— 80 mg/dL
C4— 14 mg/dL (low)
C2— 1.8 mg/dL
 
Tryptase 8 ng/mL  
4 years
5 months
Chronic urticaria panel Thyroid peroxidase antibody— 7 IU/mL
Thyroglobulin antibody— 89 IU/mL (high)
TSH— 2.30 mIU/L (high)
Histamine release— 35% (high)
 
6 years
8 months
Tryptase 9 ng/mL  
8 years
4 months
Allergen Panel Negative for all tested allergens
Total IgE— 122 kU/L (high)
 
8 years
6 months
Human immunodeficiency virus (HIV) HIV-1 antigen— not detected
HIV-1 and HIV-2 antibody— not detected
 
Immunoglobulins IgG— 1456 mg/dL (high)
IgM— 282 mg/dL (high)
IgA— 464 mg/dL (high)
 
8 years
9 months
Trio whole exome sequencing PIK3CD autosomal dominant c.3061 G > A p.E1021K de novo heterozygous pathogenic variant
CFTR autosomal recessive c.3454 G > C p.D1152H paternally inherited heterozygous pathogenic variant
 
8 years
11 months
Immunoglobulins IgG— 1531 mg/dL (high)
IgM— 301 mg/dL (high)
IgA— 368 mg/dL (high)
IgE— 97 mg/dL
 
Neutrophil oxidative burst 100%  
Streptococcus pneumoniae IgG  ≥ 0.30 μg/mL for 4 of 23 serotypes Patient completed 4-dose pneumococcal conjugate vaccine series at 15 months of age
Tetanus anti-toxoid antibody 0.52 IU/mL The patient completed the diphtheria, tetanus, and acellular pertussis vaccine series at 4 years of age
9 years
0 months
Lymphocyte proliferation to antigens panel Viable lymphocytes at day 0— 56.4% (low)
Maximum proliferation of candida as %CD45— 1.1% (low)
Maximum proliferation of candida as %CD3— 1.2% (low)
Maximum proliferation of tetanus toxoid as %CD45— 0.0% (low)
Maximum proliferation of tetanus toxoid as %CD3— 0.0% (low)
The patient completed the diphtheria, tetanus, and acellular pertussis vaccine series at 4 years of age
These tests were completed by flow cytometry
Lymphocyte proliferation to mitogens panel Viable lymphocytes at day 0— 56.2% (low)
Maximum proliferation of pokeweed mitogen (PWM) as %CD45— 7.0%
Maximum proliferation of PWM as %CD3- 8.5%
Maximum proliferation of PWM as %CD19— 3.5% (low)
Maximum proliferation of phytohemagglutinin (PHA) as %CD45— 66.7%
Maximum proliferation of PHA as %CD3— 75.4%
T- and B-cell quantitation CD45 total lymphocyte count— 2.29 TH/μL
CD3 T cells— 70%, 1593 cells/μL
CD4 T cells— 28% (low), 648 cells/μL
CD8 T cells— 40% (high), 922 cells/μL
CD19 B cells— 21%, 485 cells/μL
NK cells— 8%, 190 cells/μL
4.8 ratio— 0.7 (low)
Peripheral blood smear Mild leukocytosis with mild relative and absolute neutrophilia
Relative lymphopenia
Slight anemia
 
9 years
2 months
Complete blood count and differential WBC— 14.7 TH/μL (high)
Hgb— 11.2 g/dL (low)
Platelets— 230 TH/μL
Neutrophils— 74% (high)
Lymphocytes— 16% (low)
Monocytes— 8.6% (high)
Eosinophils— 0.8%
Absolute neutrophil count— 10.91 TH/μL (high)
 
Lymphocyte proliferation to antigens panel Viable lymphocytes at day 0— 50.9% (low)
Maximum proliferation of candida as %CD45— 2.8% (low)
Maximum proliferation of candida as %CD3— 4.2%
Maximum proliferation of tetanus toxoid as %CD45— 0.1% (low)
Maximum proliferation of tetanus toxoid as %CD3— 0.1% (low)
The patient received the tetanus, diphtheria, and acellular pertussis vaccine 5 weeks 6 days prior
These tests were completed by flow cytometry
Lymphocyte proliferation to mitogens panel Viable lymphocytes at day 0— 50.9% (low)
Maximum proliferation of PWM as %CD45— 5.7%
Maximum proliferation of PWM as %CD3— 7.6%
Maximum proliferation of PWM as %CD19— 3.0% (low)
Maximum proliferation of PHA as %CD45— 54.2%
Maximum proliferation of PHA as %CD3— 67.6%
T- and B-cell quantitation CD45 total lymphocyte count— 2.11 TH/μL
CD3 T cells— 68%, 1431 cells/μL
CD4 T cells— 30%, 624 cells/μL
CD8 T cells— 37% (high), 781 cells/μL
CD19 B cells— 24%, 499 cells/μL
NK cells— 8%, 162 cells/μL
4.8 ratio- 0.8 (low)
Streptococcus pneumoniae IgG  ≥ 0.30 μg/mL for 12 of 23 serotypes Patient received pneumococcal polysaccharide vaccine nine weeks prior
  1. Chronologic list of immunologic studies
  2. HIV human immunodeficiency virus, PHA phytohemagglutinin, PWM pokeweed mitogen