Primary Immunodeficiencies | | | | |
Severe combined immunodeficiency (SCID) | 1/50,000–1/500,000 | B cells, T cells | Adenovirus, CMV, EBV, HSV, influenza, measles, norovirus, PCP, rotavirus, RSV, VZV | Lymphatic tissue absent |
Ataxia-telangiectasia | 1/40,000–1/100,000 | B cells, T cells | Recurrent sinopulmonary infections (various organisms described), bronchiectasis | High rate of malignancies |
Wiskott–Aldrich | 1/100,000 | B cells, T cells | Encapsulated organisms (e.g., pneumococcus, meningococcus, H. influenzae), CMV, molluscum, VZV | Associated with lymphoma and autoimmune disease; eczema, thrombocytopenia |
Common variable immunodeficiency | 1/25,000 | B cells | Sinopulmonary infections, chronic gastroenteritis including giardiasis | Poor response to immunizations; lymphatic tissue present and often hypertrophied |
Agammaglobulinemia | 1/340,000 | B cells | Encapsulated bacteria (pneumococcus, Group B streptococci, H. influenza, Pseudomonas, Klebsiella, meningococcus), S. pyogenes. Recurrent otitis media, sinusitis, pneumonia are the most common infections; sepsis, osteomyelitis, and septic joints are also seen | Scant tonsils and adenoids in patient with appreciable peripheral lymph nodes |
IgA deficiency | 1/333 | B cells | Recurrent sinopulmonary infections, often with encapsulated bacteria (pneumococcus, meningococcus, Klebsiella, Pseudomonas, H. influenzae); Giardia and other gastrointestinal infections | Anaphylaxis to blood or IVIG |
DiGeorge | 1/5,000 | T cells | Sinopulmonary infections. Less than 1% have profound immunosuppression (SCID-like) | Hypocalcemic; thymic hypoplasia |
Hyper-IgE (Job's) | Unknown | Phagocytes | Staphylococcal and candidal infections of skin, lungs. Invasive pulmonary infection with PCP, Aspergillus, and Nocardia reported | Coarse facies, eczema, failure to shed primary teeth. Serum IgE often >2000 IU/mL |
Lymphocyte adhesion deficiency (LAD) | 1/100,000 | Phagocytes | Recurrent infections of skin, mucosal surfaces; periodontitis | Delayed separation of umbilical cord seen; leukocytosis seen, despite lack of pus formation |
Chronic granulomatous disease (CGD) | 1/220,000–1/500,000 | Phagocytes | Catalase-positive organisms: diphtheria, Listeria, Nocardia, staphylococci, TB, multiple gram-negative bacilli; Aspergillus, Cryptococcus | Perirectal abscesses and invasive Serratia should prompt evaluation for CGD |
Chédiak–Higashi | Unknown | Phagocytes | Staphylococci and other catalase-positive organisms (see above) | Congenital neutropenia; oculocutaneous ... |