Table 2 Immunologic studies

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