TABLE 4.
Immunologic and Clinical Features
| dCase | Age at CVID diagnosis | IgG Baseline mg/dl | IgA Baseline mg/dl | IgM Baseline mg/dl | Recurrent infections | Autoimmunity; Lympho-proliferation features | Other features | Other cancers |
|---|---|---|---|---|---|---|---|---|
| 1 | 36 (M) | 50 | 0 | 25 | Recurrent infections | AIHA; Splenomegaly | ||
| 2 | 58 (M) | NA | 9 | 29 | Cryptococcal lung disease, skin abscesses, pyoderma of legs | Vasculitis; Splenomegaly | ||
| 3a | 67 (M) | 267 | <7 | 45 | Chronic bronchitis | Chronic obstructive pulmonary disease, chronic schizophrenia | ||
| 4 | 4 (F) | 90 | 0 | 400 | Recurrent pneumonia, Hepatitis C | Malabsorption, malnutrition | Hodgkin disease age 8 | |
| 5a | 3 35 (F) | 307 | 28 | 15 | Recurrent infections | ITP Lymphadenopathy | Lung nodules | |
| 6a | 13 (F) | 180 | 23 | 15 | Pneumonias; progressive multifocal leuko- encephalopathy | ITP | Malabsorption, diarrhea bronchiectasis | |
| 7a | 51 (M) | 317 | 38 | 142 | Sinusitis | Splenomegaly | ||
| 8 | 64 (F) | 110 | 3 | 46 | Recurrent respiratory tract infections; Inner ear abscess, otitis, sinusitis, pneumonias, | Pancytopenia, pernicious anemia | Malabsorption, osteoporosis, atrophic gastritis | Thyroid adenoma |
| 9a | 24 (M) | 42 | 8 | 10 | Pneumonias | Recurrent ITP | Bronchiectasis, Interstitial lung disease; | |
| 10 | 65 (F) | 354 | 20 | 116 | Lung infections | Chronic lung disease Bronchiectasis | ||
| 11a | 30 (M) | 39 | 0 | 10 | Pneumonias, sinusitis, joint infection | Splenomegaly | Enteropathy; malabsorption | |
| 12 | 42 (F) | 464 | 8 | 84 | Recurrent infections | Pancytopenia, Pernicious anemia | Malabsorption | |
| 13 | 59 (F) | <33 | <6 | 10 | Recurrent pneumonias bronchitis, sinusitis, | Granulomatous lung disease; interstitial lung disease | ||
| 14a | 5 (F) | 450 | <5 | 160 | Mild respiratory infections I infections | Lymphadenopathy, Gastrointestinal nodular hyperplasia, splenomegaly | Enteropathy; growth failure | |
| 15a | 60 (F) | 387 | 14 | 29 | Recurrent infection; pneumonia | |||
| 16 | 46 (F) | 276 | 0 | 160 | Recurrent infections; stomatitis, glossitis | |||
| 17a | 32 (M) | <30 | <5 | 26 | Recurrent lung infections; sinus and ear infections | Hodgkin disease age 11 | ||
| 18 | 26 (F) | 245 | 10 | 63 | ||||
| 19 | 31 (F) | 101 | 7 | 11 | Lung infections | Segmental bronchiectasis | ||
| 20 | 34 (M) | 253 | 22 | 131 | Recurrent infections | Primary biliary cirrhosis | Splenectomy | Hodgkin disease earlier |
| 21 | 51 (F) | 200 | 10 | 65 | Chronic lung disease | Splenomegaly | Severe bronchiectasis | |
| 22 | 55 (F) | 380 | 66 | 35 | Recurrent infections | Protein loosing enteropathy; | ||
| 23a | 39 (M) | 267 | 49 | 20 | Recurrent infections | Recurrent ITP | ||
| 24 | 45 (F) | NA | 34 | 5 | Lung infections, otitis, sinusitis | Bronchiectasis | Nodular lymphoid hyperplasia, malabsorption | Carcinoma of the vagina |
| 25a | 46 (M) | 113 | <5 | 6 | Lung infections | Splenomegaly Hypothyroidism Primary Biliary Cirrhosis |
Granulomatous lung disease | |
| 26 | 8 (M) | 105 | 34 | 5 | Recurrent sinusitis | Juvenile Rheumatoid arthritis; ITP | Splenectomy | Hodgkin disease as a child |
| 27a | 50 (F) | 266 | <5 | <5 | Frequent respiratory tract infections/Asthma | |||
| 28 | 77 (M) | 266 | <5 | <5 | Asthma, recurrent pneumonia, | |||
| 29 | 38 (F) | 253 | 16 | 47 | Recurrent infections | |||
| 30 | 71 (F) | 512 | 6 | nl | Recurrent respiratory tract infections | |||
| 31a | 11 (M) | 6 | 21 | 16 | Recurrent respiratory tract infections; giardiasis | ITP; Splenomegaly | Lung nodules. Bronchiectasis, | |
| 32 | 62 (F) | 175 | 10 | 150 | Recurrent pneumonia, severe sinusitis, Hepatitis C | |||
| 33 | 26 (F) | 73 | 10 | 150 | Sinusitis, pneumonia | |||
| 34 | 45 (M) | 120 | <8 | 40 | Asthma, recurrent pneumonias, | Hypersplenism | ||
| 35a | 60 (F) | NA | 33 | 44 | Pneumocystis carinii Pneumonia, sinusitis | Gastritis | ||
| 36 | 53 (F) | 175 | 0 | 830 | Recurrent respiratory tract infections, Recurrent pneumonia | |||
| 37 | 50 (F) | 126 | 0 | 84 | Recurrent pneumonia | |||
| 38 | 64 (F) | 200 | 20 | 11 | Recurrent infections | AIHA | Malabsorption | |
| 39 | 40 (F) | 214 | 0 | 96 | Recurrent infections | Rheumatoid arthritis, Primary biliary cirrhosis | Chronic hepatitis, coronary artery disease | |
| 40a | 64 (F) | 190 | 60 | 90 | Mild infections | |||
| 41a | 30 (F) | 9 | <7 | <7 | Frequent respiratory tract infections, bronchitis, Herpes zoster | Interstitial lung disease, lymphadenopathy | Lung nodules; | |
| 42 | 10 (F) | 162 | 2 | 26 | Recurrent infections/Suppurative parotitis and otitis | Lung nodules; Granulomatous disease; lung and nodes | ||
| 43 | 44 (M) | 277 | 18 | 26 | Viral meningitis | Alopecia areata | ||
| 44a | 32 (F) | 335 | <5 | 50 | Mastitis, shingles | Lung nodules; Granulomatous disease nodes | ||
| 45a | 63 (F) | 215 | <5 | 18 | Shingles | Splenomegaly Hyperthyroid, | Granulomatous lung disease, Psoriasis |
Note: Abbreviations: AIHA, autoimmune hemolytic anemia; ITP, immune thrombocytopenia; NA, not available.
a
Whole exome sequence analysis was performed for gene mutations for established immune defects.