Table 2.
Immunological phenotype
| PID | Subgroup | Recurrent infections (Y/N) | Sepsis (Y/N) | Type of infection (pathogen) | Splenomegaly (Y/N) | Reduced NK cell number (Y/N) | Pelger-Huët anomaly (Y/N) | Response to vaccination (Y/N) | Low IgM (Y/N) | Low IgG (Y/N) | Low IgA (Y/N) | Immunotherapy (N / specific information) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NBAS 1 | β-propeller | Y | N | Pneumonia, recurrent urinary tract infections, tonsillitis, gastroenteritis, recurrent conjunctivitis | N | Y | N | N (MMR) | N | N | N | N |
| NBAS 7 | Y | Y | Recurrent pneumonia (RSV, H1N1), sepsis (coagulase-negative staphylococcus), recurrent viral infections | N | Y | Y | N (TD, P) | Y | Y | Y | Intravenous immunoglobulin on a regular basis | |
| NBAS 8 | Y | N | Otitis media, gastroenteritis (rotavirus) | N | N | Y | N (TD, MMR) | N | N | Y | N | |
| NBAS 10 | N | N | Y | Y | Y | Y | N | Y | Y | N | ||
| NBAS 87 | Y | Y | Recurrent bacterial infections including urinary tract infections and sepsis, potentially associated with a central intravenous access | N | Y | N | n.a | Y | Y | Y | Intravenous immunoglobulin on a regular basis; steroid therapy | |
| NBAS 2 | Sec39 | Y | Y | Pharyngitis, rhinitis, tonsillitis, otitis media, gastroenteritis, pneumonia | Y | Y | N | Y | N | N | N | N |
| NBAS 4 | N | m.d | Gastroenteritis | Y | Y | N | Y | N | N | N | N | |
| NBAS 54 | Y | Y | Otitis media, mastoiditis, meningitis, gastroenteritis (salmonella), pneumonia (rubella), varicella zoster reactivation on the left leg | N | Y | N | Y | N | N | N | Interferon beta 1a (begun before diagnosis of NBAS deficiency has been made); no hospital admissions or major infections during one year course of treatment; after discontinuation fulminant liver crisis triggered by a febrile upper respiratory tract infection | |
| NBAS 60 | N | N | Hepatitis (HHV6) | N | Y | m.d | N (D) | Y | Y | N | Intravenous immunoglobulin once during episode of acute liver failure | |
| NBAS 88* | N | N | N | N | m.d | Y | N | N | Y | N | ||
| NBAS 28 | C-terminal | Y | Y | Endocarditis, otitis media | N | N | Y | Y | Y | Y | Y | Intravenous immunoglobulin on a regular basis |
| NBAS 29 | Y | N | Respiratory infections (Candida Albicans, herpes simplex virus) | N | Y | Y | Y | Y | Y | Y | Subcutaneous immunoglobulin on a regular basis | |
| NBAS 14 | Y | N | Respiratory infections, otitis media, gastroenteritis | N | N | Y | m.d | Y | Y | N | N | |
| NBAS 57 | Y | N | Pneumonia | N | Y | N | N | Y | Y | Y | Subcutaneous immunoglobulin on a regular basis | |
| NBAS 3 | N | N | Otitis media | Y | Y | N | Y | N | N | N | N |
PID, patient identifier; Y, yes; N, no; Ig, immunoglobulin; HHV6, human herpesvirus 6; MMR, measles mumps rubella; TD, tetanus diphteria; P, poliomyelitis; m.d., missing data; n.a., not applicable
*Family history triggered investigation (brother of NBAS 60); elevated hepatic transaminases as the only symptom of the disease at the age 8 months (closure of study database); for exact values, see Table S1