Test Most Frequently Used to Diagnose A Primary Immune Deficiency
| Test | Information | PID Disease |
|---|---|---|
| Blood cell counts and cell morphology | Neutrophil counts Lymphocyte countsa Eosinophilia Howell-Jolly bodies | ↓Severe congenital neutropenia, ↑↑ LAD T-cell ID WAS, hyper-IgE syndrome Asplenia |
| Chest x-ray | Thymic shadow Costochondral junctions | SCID, DiGeorge syndrome Adenosine deaminase deficiency |
| Bone x-ray | Metaphyseal ends | Cartilage hair hypoplasia |
| Immunoglobulin serum levels | IgG, IgA, IgM IgE | B-cell ID Hyper-IgE syndrome, WAS, T-cell ID |
| Lymphocyte phenotype | T-, B-lymphocyte counts | T-cell ID, agammaglobulinemia |
DHR assay NBT assay | Reactive oxygen species production by PMN | Chronic granulomatous disease |
| CH50, AP50 | Classic and alternative complement pathways | Complement deficiencies |
| Ultrasonography of the abdomen | Spleen size | Asplenia |
aNormal counts vary with age. For example, the lymphocyte count is between 3000 and 9000/µL of blood below the age of 3 months and between 1500 and 2500/µL in adults.
Abbreviations: DHR, dihydrorhodamine fluorescence; ID, immunodeficiency; LAD, leukocyte adhesion deficiency; NBT, nitroblue tetrazolium; PID, primary immune deficiency; PMNs, polymorphonuclear leukocytes; SCID, severe combined immunodeficiency; WAS, Wiskott-Aldrich syndrome.