Tests Most Frequently Used to Diagnose a Primary Immune Deficiency (PID)

TEST	INFORMATION	PID DISEASE
Tests Most Frequently Used to Diagnose a Primary Immune Deficiency (PID)
Blood cell counts and cell morphology	Neutrophil counts^a Lymphocyte counts^a 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's 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
Dihydrorhodamine fluorescence (DHR) assay Nitroblue tetrazolium (NBT) assay	Reactive oxygen species production by PMNs	Chronic granulomatous disease
CH50, AP50	Classic and alternative complement pathways	Complement deficiencies
Ultrasonography of the abdomen	Spleen size	Asplenia

^a Normal 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: ID, immunodeficiency; LAD, leukocyte adhesion deficiency; PMNs, polymorphonuclear leukocytes; SCID, severe combined immunodeficiency; WAS, Wiskott-Aldrich syndrome.

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Table 160-2