Table 4.
Immunological tests additional to baseline tests in patients with suspected PID
| Baseline level | First levela | Second levelb | Third levelb | N (Composition of panel) | Votes in agreement (%) | Degree of agreement |
| Combined | ||||||
| Complete blood count IgA, IgG, IgM and IgE levels Biochemical analysise |
Lymphocyte populations | Extended phenotype, lymphocyte function | Protein expression Functional and genetic studies |
34 (AI, AP) | 91.2 | Consensus |
| PID-associated syndromes | ||||||
| Complete blood count IgA, IgG, IgM and IgE levels Biochemical analysise |
Karyotype ± CGH Array |
Studies according to specific suspicion | Protein expression Functional and genetic studies |
33* (AI, AP) | 87.9 | Consensus |
| Antibody production deficiencyc | ||||||
| Complete blood count IgA, IgG, IgM and IgE levels Biochemical analysise |
Basic antibody production study (ASLO, hemaglutinins and tetanus) | IgG subclasses Response to Salmonella typhi or pneumococcus Response to tetanus toxoidd and H. influenzae (optional) Lymphocyte populations with extended phenotype B |
Protein expression Functional and genetic studies |
34 (AI, AP) | 91.2 | Consensus |
| Immune deregulation | ||||||
| Complete blood count IgA, IgG, IgM and IgE levels Biochemical analysise |
Autoantibody panel (ANA and NOSAB, anti-neutrophils) Targeted hormone study Coombs test Vitamin B12 with neural tube defects Soluble FAS ligand Ferritin Triglycerides Fibrinogen Calcium and phosphorus |
Treg Soluble CD25 FoxP3 |
Protein expression Functional and genetic studies |
33* (AI, AP) | 97.0 | Consensus |
| Phagocyte deficienciesd | ||||||
| Complete blood count IgA, IgG, IgM and IgE levels Biochemical analysise |
Oxidation test (DHR) Basic lymphocyte subpopulations |
CD18/11b | – | 34 (AI, AP) | 91.2 | Consensus |
| Innate immunity disorder | ||||||
| Complete blood count IgA, IgG, IgM and IgE levels Biochemical analysise |
Studies according to clinical suspicion | – | Protein expression Functional and genetic studies |
34 (AI, AP) | 97.1 | Consensus |
| Complement deficiency | ||||||
| Complete blood count IgA, IgG, IgM and IgE levels Biochemical analysise |
CH50, C3, C4, autoimmunity studies | AP50 Factor quantification |
Protein expression Functional and genetic studies |
34 (AI, AP) | 94.1 | Consensus |
| Autoinflammatory diseasesd | ||||||
| Complete blood count IgA, IgG, IgM and IgE levels Biochemical analysise |
Inflammatory markers CRP ESR |
SAA | Genetic studies | 33* (AI, AP) | 84.8 | Consensus |
AI: adult immunologists; ANA: antinuclear antibodies, ASLO: antistreptolysin O; Coombs: antiglobulin test; CRP: C-reactive protein; DHR: dihydrorhodamine 123; DNT: double negative alpha/beta T cells; ESR: erythrocyte sedimentation rate; NOSAB: non-specific autoantibodies; PI: pediatric immunologists; SAA: serum amyloid A; Treg: regulatory T cells
aFirst-level tests will be carried out in primary care or hospital centers which have laboratories with the necessary resources
bSecond and third-level tests will be carried out in reference centers
c These tests will also be performed in any PID that includes antibody production deficiencies as part of the entity
d Proposals for changes are included throughout the text
e Biochemical analysis includes, at least: blood urea nitrogen, creatinine, liver enzymes, C-reactive protein and albumin
*One value is missing