Table I.
Patient characteristics
| Patient no. | Age (y) | Sex | Underlying diagnosis | Genetics | Clinical manifestations/complications | IgRT | Immunomodulator/antibiotic |
|---|---|---|---|---|---|---|---|
| 1 | 40 | M | XLA | c.3G>A; p.M1I | Bronchiectasis | Y | None |
| 2 | 51 | M | XLA | c.952T>C; p.S318P | Bronchiectasis and conjunctivitis | Y | None |
| 3 | 49 | M | XLA | Yes∗ | Y | None | |
| 4 | 42 | M | XLA | c.1631+1G>T | Bronchiectasis, Haemophilus influenzae conjunctivitis | Y | None |
| Rit | 56 | F | Hypogammaglobulinemia | No | ↓Ig, B-cell lymphopenia, myasthenia gravis | Y | Rituximab |
| 5 | 37 | M | STAT1-GOF mutation | c.1310C>T; pT437I | CMC, recurrent oral ulcers | N | Ruxolitinib |
| 6 | 21 | F | ALPS-like disease | BCL6B VUS | LAD, ITP, AIN, AIHA | N | Rapamycin |
| 7 | 51 | M | CVID/ALPS-like disease | N | ↓Ig, LAD, pulmonary HTN, s/p splenectomy for ITP | Y | Prophylactic co-trimoxazole |
| 8 | 41 | M | STAT3-LOF mutation (HIES) | c.1144C>T; p.R382W | Pneumatocele, s/p partial lobectomy, after AVR d/t MRSA endocarditis | Y | Co-trimoxazole and azithromycin |
| 9 | 48 | M | CID | Negative | ↓Ig, massive splenomegaly, s/p DLBCL (-3 y) | Y | Prophylactic co-trimoxazole |
| 10 | 32 | F | NFKB1-HI | c.509TinsGGTGCAA; p.L170ins exon 7/24fs | Hypogammaglobulinemia, LAD, AIN | N | None |
| 11 | 72 | M | NFKB1-HI | None | N | None | |
| 12 | 36 | F | Complete C4 deficiency | Yes | Cryoglobulinemia, ↓Ig | Y | Rituximab (-2 y) |
| 13 | 27 | F | Selective IgG2 deficiency | No | ↓Ig, recurrent pneumonia | Y | None |
| 14 | 37 | F | CVID | No | ↓Ig, aHUS, recurrent pneumonia | Y | None |
| 15 | 38 | M | CVID | No | ↓Ig, IBD-like | Y | None |
| 16 | 39 | F | CVID | No | ↓Ig, NRH | Y | None |
| 17 | 45 | F | CVID | No | ↓Ig, T1D, lymphocytic infiltrates on GI biopsy specimens | Y | None |
| 18 | 46 | F | CVID | Negative | ↓Ig, recurrent pneumonia, history of Crohn-like disease | Y | None (azathioprine in the past) |
| 19 | 50 | F | CVID | No | ↓Ig, vitiligo | Y | None |
| 20 | 59 | F | CVID | No | ↓Ig | Y | None |
| 21 | 60 | F | CVID | No | ↓Ig, s/p breast cancer | Y | None |
| 22 | 64 | F | CVID | No | ↓Ig, IBD-like | Y | None |
| 23 | 65 | F | CVID | No | ↓Ig | Y | None |
| 24 | 67 | F | CVID | No | ↓Ig | Y | None |
| 25 | 72 | M | Hypogammaglobulinemia | No | ↓Ig | N | None |
| 26 | 73 | F | CVID | Negative | ↓Ig, lung nodules, sarcoma | Y | None |
| Con | 37 | F | Selective IgG1 and IgG3 deficiency | No | ↓Ig, recurrent pneumonia | Y | None |
aHUS, Atypical hemolytic uremic syndrome; AIHA, autoimmune hemolytic anemia; AIN, autoimmune neutropenia; AVR, aortic valve replacement; CMC, chronic mucocutaneous candidiasis; Con, convalescent; DLBCL, diffuse large B-cell lymphoma; d/t, due to; F, female; GI, gastrointestinal; HIES, hyper IgE syndrome; HTN, hypertension; IBD, inflammatory bowel disease; ↓Ig, hypogammaglobulinemia; IgRT, immunoglobulin replacement therapy; ITP, idiopathic thrombocytopenic purpura; LAD, lymphadenopathy; M, male; N, No; NRH, nodular regenerative hyperplasia; Rit, After rituximab; s/p, status post; STAT3-LOF, STAT3 loss-of-function; T1D, type I diabetes; VUS, Variant of uncertain significance; Y, yes.
Genetically confirmed but patient preferred to not publish the pathogenic variant.