Table 1 Laboratory evaluation of inborn errors of immunity

Basic screening

HIV testing

Complete blood count & differential, peripheral blood smear

Renal and liver function

Inflammatory markers

Innate immunity

Neutrophil functional assays

C2, C3, C4 levels

Complement activity assays (ex: CH50 and AH50 assays)

Adaptive immunity

T-cell/combined immunodeficiency:

 • Flow cytometry for B-, T-, NK-cell enumeration

 • T-cell memory panel

 • Lymphocyte functional assays

 B-Cell/predominately antibody deficiency:

 • Serum immunoglobulins: IgG, IgM, IgA, IgE

 • B-cell memory panel

 • Serum-specific antibody titers to vaccine antigens: tetanus, diphtheria, pneumococcus

Advanced testing

Anti-cytokine antibody assays

Cytokine and cytokine receptor levels

Cytotoxic cell protein expression & functional assays

Genetic testing