TABLE I.
Prevalence of FA and AD among patients with PIDDs
| PIDDs (n = 2263) | Age (y), mean/median (range) | FA (n = 40) | AD (n = 136) |
|---|---|---|---|
| Agammaglobulinemia (n = 339) | 37.5/42 (18-42) | 0.6% (2) | 1.5% (5) |
| X-linked (n = 332) | 0.3% (1) | 1.5% (5) | |
| Unknown genetic cause (n = 7) | 14.29% (1) | NR | |
| CD40 ligand deficiency (n = 13) | NR | 7.7% (1) | NR |
| Chronic granulomatous disease, X-linked (n = 283) | 16.5/16.5 (13-20) | NR | 0.7% (2) |
| CID (n = 3) | 15 | 33.3% (1) | 33.3% (1) |
| CSR defects and HIGM syndromes, unknown genetic cause (n = 112) | 32 | NR | 0.9% (1) |
| CVID (n = 773) | 36.6/33 (10-82) | 3.1% (24) | 4.4% (34) |
| DiGeorge syndrome (n = 362) | 6.7/7 (6-7) | 0.3% (1) | 0.6% (2) |
| Chromosome 22q11.2 deletion (n = 314) | NR | 0.3% (1) | |
| Unknown genetic cause (n = 48) | 2.1% (1) | 2.1% (1) | |
| HIES (n = 16) | 22/18.5 (14-37) | 6.3% (1) | 25% (4) |
| STAT3 (n = 5) | 20% (1) | 60% (3) | |
| Unknown genetic cause (n = 11) | NR | 9.1% (1) | |
| Selective IgA deficiency (n = 4) | 8 | 25% (1) | NR |
| Other hypogammaglobulinemias (n = 28) | 52/63.5 (10-71) | 7.1% (2) | 7.1% (2) |
| NEMO deficiency (n = 8) | 11.2/10 (7-18) | NR | 62.5% (5) |
| SCID, undefined (n = 131) | 17 | NR | 0.8% (1) |
| Selective IgM deficiency (n = 3) | 53 | NR | 33.3% (1) |
| WAS (n = 188) | 31.7/30.5 (6-62) | 3.7% (7) | 41.5% (78) |
| Mutations in WASP (n = 14) | 21.4% (3) | 7.1% (1) | |
| Unknown genetic cause (n = 173) | 1.7% (3) | 44.5% (77) | |
| X-linked thrombocytopenia with mutations in WASP (n = 1) | 100% (1) | NR | |
| Total | 1.77% | 6.01% |
CSR, Class-switch recombination; HIGM, hyper-IgM; NEMO, nuclear factor κB essential modulator; NR, not reported; SCID, severe combined immunodeficiency; STAT3, Signal transducer and activator of transcription 3; WASP, Wiskott-Aldrich syndrome protein.