Neutrophil characteristics and discordant features with similar patient reports
| . | LAD-1 variant . | LAD-1 classical . | LAD-2 . | Harris et al2 . | McDowall et al3 . | Alon et al (LAD-3)4 . |
|---|---|---|---|---|---|---|
| WBC count | 10-30 | 50-120 | ND | ND | ND | ND |
| % Neutrophils | 60-90 | 60-90 | ND | ND | ND | ND |
| CD11/CD18 expression | N | Absent | N | N | N | N |
| CD18 DNA sequence | N | Mutated | N | N | ND | ND |
| GPCR-induced integrin activation | Absent | Absent | N | Absent | Absent | Absent |
| Chemotaxis | Absent | Absent | Reduced? | Absent | ND | N* |
| PMA-induced adhesion | Reduced | Absent | N | Reduced | Reduced | N |
| STZ-induced oxidase | N | 50% | ND | ND | ND | ND |
| Zym-induced oxidase | Absent | Absent | ND | ND | ND | ND |
| Spreading in cell track assay (ICAM) | N | Absent | ND | ND | ND | ND |
| Random migration in cell track | Absent | Absent | ND | ND | Normal (T cells) | ND |
| Consanguinity (region) | Yes (Anatolia) | Yes (worldwide) | Yes (Arab/Brazil) | No (United States) | No (Malta) | Yes (Arab) |
| Discordant features | ND | No bleeding | No bleeding; retardation | PCP infection | ND | ND |
| Special remarks | ND | ND | Fucosylation defect | β1 defect† | β1 defect† | β1 defect† |
| . | LAD-1 variant . | LAD-1 classical . | LAD-2 . | Harris et al2 . | McDowall et al3 . | Alon et al (LAD-3)4 . |
|---|---|---|---|---|---|---|
| WBC count | 10-30 | 50-120 | ND | ND | ND | ND |
| % Neutrophils | 60-90 | 60-90 | ND | ND | ND | ND |
| CD11/CD18 expression | N | Absent | N | N | N | N |
| CD18 DNA sequence | N | Mutated | N | N | ND | ND |
| GPCR-induced integrin activation | Absent | Absent | N | Absent | Absent | Absent |
| Chemotaxis | Absent | Absent | Reduced? | Absent | ND | N* |
| PMA-induced adhesion | Reduced | Absent | N | Reduced | Reduced | N |
| STZ-induced oxidase | N | 50% | ND | ND | ND | ND |
| Zym-induced oxidase | Absent | Absent | ND | ND | ND | ND |
| Spreading in cell track assay (ICAM) | N | Absent | ND | ND | ND | ND |
| Random migration in cell track | Absent | Absent | ND | ND | Normal (T cells) | ND |
| Consanguinity (region) | Yes (Anatolia) | Yes (worldwide) | Yes (Arab/Brazil) | No (United States) | No (Malta) | Yes (Arab) |
| Discordant features | ND | No bleeding | No bleeding; retardation | PCP infection | ND | ND |
| Special remarks | ND | ND | Fucosylation defect | β1 defect† | β1 defect† | β1 defect† |