Patients’ demographics and summary of clinical and immunological phenotype
| Subject . | CVID phenotype . | Sex . | Race/ethnicity . | Age at diagnosis . | Age at enrollment . | Treatment . | Active NIC at time of sample collection . | History of immune suppression used . | # years from immune suppression use to fecal sampling . | Baseline IgA . | Baseline IgM . | Total B cells . | CD27+ CD21low . | CD3+ . | CD4+ . | CD8+ . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | INF | M | White | 28 | 30 | IVIG | N/A | N/A | N/A | <15 | <5 | 6% (430) | 9.5% (41) | 75% (1,697) | 31.9% (722) | 40.3% (912) |
| 3 | INF | M | White | 50 | 64 | IVIG | N/A | Mesalamine | 2 mo | <5 | <5 | 0 | 0 | 95% (1,949) | 27.9% (572) | 74% (1,518) |
| 5 | INFa | M | White | 43 | 50 | IVIG | N/A | Rituximab + hyper CVD | 20 years | <10 | 11 | 7.2% (98) | 2.1% (1) | 70% (1,084) | 32.7% (445) | 40.1 (545) |
| 15 | INF | F | White | 52 | 57 | SCIG | N/A | N/A | N/A | <5 | 8.5 | 18.2 (367) | 21.5% (79) | 77% (1,461) | 44.3% (841) | 31.7 (602) |
| 19 | INF | F | White | 57 | HyQvia | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | |
| 2 | NIC | F | White | 41 | 70 | IVIG | Sjogren syndrome, Barrett's esophagus, B12 deficiency, and chronic diarrhea | N/A | N/A | <6 | 11.8 | 9.9% (198) | 3.9% (8) | 63% (1,106) | 29% (509) | 32% (562) |
| 4 | NIC | F | White/Hispanic | 32 | 42 | HyQvia | CVID-entropathyc | Budesonide | On and off 3 years | <5 | <5 | 25.4% (283) | 1% (4) | 69% (770) | 42% (469) | 25.8% (288) |
| 11 | NIC | M | White | 33 | 52 | SCIG | GLILD, liver NRH, CVID entropathy, and splenomegaly | Ustekinumab and oral IgG | 3 mo | <6 | 7.3 | 15% (113) | 3.1% (4) | 73 (471) | 40% (258) | 27% (174) |
| 12 | NICb | F | White/Hispanic | 34 | 38 | IVIG | Alopecia, vitiligo, premature ovarian failure, and cytopenia | None | N/A | 76 | 76.3 | 3 | N/A | 80 | 47 | 31 |
| 18 | NIC | F | White | 59 | 64 | IVIG | GLILD, NRH, and thrombocytopenia | Rituximab | 2 years | <9 | 339 | 21% (254) | N/A | 70% (892) | 53% (627) | 14% (168) |
| 20 | NIC | M | White | 21 | HyQvia | Cerebral vasculitis and granulomatous encephalitis | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
| Subject . | CVID phenotype . | Sex . | Race/ethnicity . | Age at diagnosis . | Age at enrollment . | Treatment . | Active NIC at time of sample collection . | History of immune suppression used . | # years from immune suppression use to fecal sampling . | Baseline IgA . | Baseline IgM . | Total B cells . | CD27+ CD21low . | CD3+ . | CD4+ . | CD8+ . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | INF | M | White | 28 | 30 | IVIG | N/A | N/A | N/A | <15 | <5 | 6% (430) | 9.5% (41) | 75% (1,697) | 31.9% (722) | 40.3% (912) |
| 3 | INF | M | White | 50 | 64 | IVIG | N/A | Mesalamine | 2 mo | <5 | <5 | 0 | 0 | 95% (1,949) | 27.9% (572) | 74% (1,518) |
| 5 | INFa | M | White | 43 | 50 | IVIG | N/A | Rituximab + hyper CVD | 20 years | <10 | 11 | 7.2% (98) | 2.1% (1) | 70% (1,084) | 32.7% (445) | 40.1 (545) |
| 15 | INF | F | White | 52 | 57 | SCIG | N/A | N/A | N/A | <5 | 8.5 | 18.2 (367) | 21.5% (79) | 77% (1,461) | 44.3% (841) | 31.7 (602) |
| 19 | INF | F | White | 57 | HyQvia | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | |
| 2 | NIC | F | White | 41 | 70 | IVIG | Sjogren syndrome, Barrett's esophagus, B12 deficiency, and chronic diarrhea | N/A | N/A | <6 | 11.8 | 9.9% (198) | 3.9% (8) | 63% (1,106) | 29% (509) | 32% (562) |
| 4 | NIC | F | White/Hispanic | 32 | 42 | HyQvia | CVID-entropathyc | Budesonide | On and off 3 years | <5 | <5 | 25.4% (283) | 1% (4) | 69% (770) | 42% (469) | 25.8% (288) |
| 11 | NIC | M | White | 33 | 52 | SCIG | GLILD, liver NRH, CVID entropathy, and splenomegaly | Ustekinumab and oral IgG | 3 mo | <6 | 7.3 | 15% (113) | 3.1% (4) | 73 (471) | 40% (258) | 27% (174) |
| 12 | NICb | F | White/Hispanic | 34 | 38 | IVIG | Alopecia, vitiligo, premature ovarian failure, and cytopenia | None | N/A | 76 | 76.3 | 3 | N/A | 80 | 47 | 31 |
| 18 | NIC | F | White | 59 | 64 | IVIG | GLILD, NRH, and thrombocytopenia | Rituximab | 2 years | <9 | 339 | 21% (254) | N/A | 70% (892) | 53% (627) | 14% (168) |
| 20 | NIC | M | White | 21 | HyQvia | Cerebral vasculitis and granulomatous encephalitis | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
GLILD: granulomatous lymphocytic interstitial lung disease. NRH: nodular regenerative hyperplasia. Hyper CVAD includes cyclophosphamide, vincristine, Adriamycin (doxorubicin), dexamethasone, methotrexate, and cytarabine. N/A: Data were not available for those patients.
Patient developed EBV-related lymphoma 20 years ago (currently in remission), treated with rituximab, never recovered Igs, has 0 switched memory B cells, undetectable IgA, and IgM.
Patient presented with CVID phenotype at age 34, later found to have RAG1 mutation.
CVID enteropathy includes inflammatory bowel disease like enteritis.