|
| PID | Study group
| Method of diagnosis |
|
| Combined immunodeficiencies, (%) | 1 (3.85%) | Decreased numbers of lymphocytes and immunoglobulins levels associated with opportunistic infections |
| Complement deficiencies, (%) | 1 (3.85%) | Quantitative C1 inhibitor deficiency |
| Defects in innate immunity (%) | 1 (3.85%) | |
| Chronic mucocutaneous candidiasis | 1/1 | Phenotypic diagnosis: persistent mucocutaneous candidiasis |
| Congenital defects of phagocyte number and/or function | 2 (7.69%) | |
| Chronic granulomatous disease | 1/2 | Dihydrorhodamine (DHR) flow cytometry test |
| Cyclic neutropenia | 1/2 | Low neutrophils count |
| Well-defined immunodeficiency syndromes, (%) | 3 (11.55%) | |
| Ataxia-telangiectasia | 1/3 | Syndromic features |
| Chromosome 22q11.2 deletion syndrome | 1/3 | FISH test for 22q11 deletion |
| Hyper-IgE syndrome | 1/3 | Syndromic features, NIH clinical feature scoring system |
| Predominantly antibody deficiency disease, (%) | 17 (65.38%) | |
| CVID | 8/17 | Low IgG and IgA and/or IgM |
| X-linked agammaglobulinemia | 3/17 | Mutation in BTK. Severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells |
| Selective IgA deficiency | 2/17 | IgA decreased/absent |
| Isolated IgG subclass deficiency | 2/17 | Reduction in one or more IgG subclass |
| THI with normal numbers of B cells | 2/17 | IgG and IgA decreased |
|
