Version May 2024
| Category | Specific examples/features | Diagnostic tests |
| Immunodeficiency states | ||
| IgG deficiency | Congenital (Bruton-type) agammaglobulinemia; selective deficiency of subclasses (IgG2, IgG4); acquired immunoglobulin deficiency; common variable hypogammaglobulinemia; "bare lymphocyte" syndrome | Quantitative immunoglobulin levels; immunoglobulin subclass levels; impaired response to immunization with pneumococcal vaccine |
| IgA deficiency | Selective IgA deficiency ± ataxia-telangiectasia syndrome | Quantitative immunoglobulin levels |
| Leukocyte dysfunction | Chronic granulomatous disease (NADPH oxidase dysfunction) | Dihydrorhodamine 123 (DHR) oxidation test; nitroblue tetrazolium test; genetic testing |
| Other rare humoral immunodeficiencies (CXCR4 mutation, CD40 deficiency, CD40 ligand deficiency, and others) | WHIM; hypergammaglobulinemia M | Neutrophil count; quantitative immunoglobulin levels |
| Abnormal secretion clearance | ||
| Ciliary defects of airway mucosa | Primary ciliary dyskinesia with or without situs inversus (Kartagener syndrome) | Nasal nitric oxide and extended panel genetic testing. High speed videomicroscopy analysis (HSVA, also called HSVM) and transmission electron microscopy (TEM) may be needed if genetic testing negative in patient with high suspicion of ciliary dyskinesia. |
| Cystic fibrosis (mucoviscidosis) | Typical early childhood syndrome; later presentation with predominantly sinopulmonary symptoms | Sweat chloride; genetic testing |
| Young syndrome | Obstructive azoospermia with sinopulmonary infections | Sperm count |
| Miscellaneous disorders | ||
| Alpha-1 antitrypsin deficiency | Absent or abnormal antitrypsin protein and/or decreased hepatocyte secretion into blood | Alpha-1 antitrypsin serum level; alpha-1 antitrypsin genotyping |
| Recurrent aspiration pneumonia | Alcoholism; neurologic disorders; lipoid pneumonia | History; chest imaging |
| Rheumatic disease | Associated with rheumatoid arthritis and Sjögren syndrome | Rheumatoid factor; antiSSA/antiSSB; salivary gland MRI or biopsy |
| Inflammatory bowel disease | Crohn disease; ulcerative colitis | History; lower gastrointestinal endoscopy; colonic biopsy |
| Inhalation of toxic fumes and dusts | Ammonia; nitrogen dioxide, or other irritant gases; smoke | Exposure history; chest imaging |
| Chronic rejection following organ transplantation | Bone marrow, lung and heart lung transplantation; associated with obliterative bronchiolitis | History; PFT; chest CT imaging with inspiratory and expiratory views |
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