Table 7.
Analysis of published case series of patients with XLA.
| Country (Reference) | (N) | Age -presentation | Age at diagnosis | Presenting manifestation | FH | Pneumonia (%) | GI disease (%) | Meningitis/encephalitis | Otitis | Other | CLD (%) | Deaths (%) | BTK mutations |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Algeria44 | 9 | 15 m | 6.7y | 100% Respiratory infections | 22% | 100% | 22% | 22% Neutropenia 11% Arthritis 11% Skin infection |
77% | 66.6% | |||
| Iran45, 46 | 30 | 67% | 27% | 20% | 63% | 20% Septic arthritis 13% JIA 10% Neutropenia |
17% | ||||||
| Morocco8 | 50 | 10 m | 4y | 32% | 92% | 42% | 27% | 47% | 37% arthritis 10% osteomyelitis |
15% | 79% | ||
| France47 | 31 | 7 m | 84% Infections | 16% | 48% | 10% Enteropathy | 10% Enteroviral | 13% Chronic sinusitis 3% Orchitis 3% Septic Arthritis 22% Aseptic arthritis 6% Skin |
19% | 3.2% | 83.8% | ||
| Italy24 | 73 | 3.5y | 68% Respiratory infections |
40% | 53% | 19% Gastroenteritis | 4% | 50% | 48% Chronic sinusitis 27% Skin 10% Arthritis 3% VAPP 1% Neutropenia |
33% | 1.4% | 100% | |
| Netherlands48 | 15 | 14 m | 6.5y | 100% | 73% Gastroenteritis 47% Giardiasis |
27% | 53% | 67% Sinusitis | 80% | 33% | 26.6% | ||
| Poland43 | 44 | 13 m | 3.7y | 73% Lower respiratory infections |
59% | 64% | 14% | 41% | 34% Sinusitis 16% Arthritis 14% Skin abscesses |
27% | 4.5% | 100% | |
| Portugal49 | 9 | 13 m | 3.4y | 89% Infection |
11% | 56% | 33% Giardia | 78% | 33% Neutropenia 22% Septic arthritis |
22% | 0% | 100% | |
| Spain50 | 30 | 23 m | 6y | 55% | 83% | ||||||||
| United Kingdom51 | 69 | 2.2y | 62% | 67% | 16% | 17% | 17% Skin 6% Septic arthritis 16% Aseptic arthritis |
||||||
| China25 | 62 | 24 m | 7y | 40% | 73% | 29% | 13% | 37% | 29% arthritis 3% vaccine-associated polio |
100% | |||
| Korea19 | 19 | 4.9y | 31% | 68% | 16% Gastroenteritis | 16% Meningitis 5% Encephalitis |
32% | 26% Septic arthritis 26% Skin Infection 21% Sinusitis |
5% | 10.5% | 42% | ||
| Mexico52 | 26 | 69% | 19% Diarrhea 4% Colitis | 38% | 61% | 57% Sinusitis 38% Septic arthritis 11% Skin abscesses |
100% | ||||||
| USA18 | 96 | 10 m | 2.9y | 65% Lower Respiratory 75% ENT |
55% | 65% | 35% | 16% | 59% | 28% Skin | 70% | 17% | |
| USA14 | 201 | 12 m | 4y | 86% Infection | 58% | 62% | 23% | 12% | 70% | 60% Sinusitis 8% Orchitis 18% Skin 11% Neutropenia 7% Septic arthritis 1% VAPP |
8.5% | 59% |
FH: Family history; GI: gastrointestinal; CLD: chronic lung disease; JIA: juvenile idiopathic arthritis; VAPP: vaccine associated paralytic poliomyelitis.