Table 1.
Demographics, diagnosis, and clinical and genetic data of IEI cohort.
| Pt code | Gender (M/F) | Age (years) | Diagnosis | Clinical phenotype | Comorbidities | Genetics | IVIG(Y/N) | Other treatments | Past treatments | Vaccine side effects |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 45 | XLA | LRTI; skin infections; | COPD, chronic pancreatitis, sclerosing cholangitis | Hemizygous BTK missense VoUS: c.1078 A>G, p.T316A | Y | Antibiotic prophylaxis; ICS-LABA | / | Myalgia |
| 2 | F | 48 | CVID | URTI; LRTI; UTI; vaginal candidiasis; Rheumatoid Arthritis; | Headache; Fibromyalgia; | Heterozygous IKBKB missense VoUS: c.1465A>G: p.S489G | Y | Sarilumab, SSZ | Anti-TNF agents, RTX - DMARDS | Fever |
| 3 | M | 32 | unPAD | URTI; LRTI; Rheumatoid Arthritis | / | Negative * | Y | SSZ, Hydroxychloroquine | Anti-TNF agents, RTX - DMARDS | Fever and myalgia |
| 4 | M | 51 | unPAD | URTI; LRTI; past gastric non-Hodgkin lymphoma | Asthma | Negative * | Y | / | R-CHOP chemotherapy (2006) | Fever and malaise |
| 5 | M | 18 | CVID | Past thrombocytopenia and neutropenia; URTI; LRTI | / | Negative ** | Y | / | Parenteral corticosteroids and high dose IVIG | Fever and malaise |
| 6 | F | 32 | WHIM-like | HPV infections | Pelvic inflammatory disease | WES in progress | N | / | / | Local pain |
| 7 | F | 51 | CVID | LRTI; chronic sinusitis; S. epidermidis superinfection on surgical wound; ulcerative colitis and spondyloarthritis | Asthma | Heterozygous NFKB1 missense VoUS: c.1501C>G:p.L501V heterozygous TCF3 missense VoUS:c.931G>C: p.V311L and c.920A>G: p.H307R |
Y | SSZ | Betamethasone, methylprednisolone | Myalgia |
| 8 | M | 34 | CVID | GI; UTI; arthritis | / | Negative *** | Y | / | / | Not referred |
| 9 | M | 20 | unPAD | URTI | Allergic rhinitis, headache, anxiety disorder | Negative *** | N | Antihistamine; valproic acid | / | Malaise and fever |
| 10 | F | 21 | CVID | ITP; Hashimoto thyroiditis | Allergic rhinitis | Negative * | Y | Antihistamine | Parenteral corticosteroids, high-dose IVIG, MMF | Not reported |
| 11 | F | 31 | CVID | Past ITP | / | Heterozygous PTPN22 missense VoUS: c.1858C>T p.R620W | Y | / | Parenteral CCS, high dose IVIG, RTX | Fever |
| 12 | F | 38 | CVID | Vitiligo; Hashimoto thyroiditis | / | Heterozygous TNFRSF13B (TACI) missense VoUS: c.512T>G; p.L171R |
Y | / | / | Not referred |
| 13 | F | 25 | CVID | GI; URTI; HP infection; recurrent abdominal pain | Chronic sinusitis | Heterozygous TNFRSF13B (TACI) missense VoUS: c.58C>T; p.R20C |
Y | / | / | Fever, myalgia and headache |
| 14 | F | 59 | unPAD | Legionella pneumonia; | Chronic renal failure, hypertension, obesity | CVID NGS panel in progress | Y | Antibiotic prophylaxis | / | Not referred |
| 15 | F | 33 | unPAD | URTI; LRTI; | Allergic rhinitis and asthma | NGS analysis progress | N | ICS-LABA; antihistamine | NO | Fever |
| 16 | M | 16 | CVID | Past Burkitt lymphoma; URTI, LRTI | / | NGS analysis progress | Y | / | R-CODOX M chemotherapy | Local pain |
| 17 | M | 21 | CVID | LRTI; chronic sinusitis; mild asymptomatic thrombocytopenia | Severe hypermetropia; psychomotor delay, dysgenesis of corpus callosum, cysts of arachnoid mater | WGS in progress | Y | / | / | Not referred |
| 18 | M | 21 | CVID | URTI; recurrent laryngospasm; splenomegaly; atypical mycobacterial infection; ITP | Preclinical diabetes; symmetric axonal sensitive polyneuropathy | Heterozygous TNFRSF13C (BAFFR) missense VoUS: c.C475T:p.H159Y | Y | / | / | Not referred |
| 19 | M | 20 | CVID | URTI; chronic rhinosinusitis; Hashimoto thyroiditis | Obsessive–compulsive disorder | Novel unpublished NFKB1 variant: functional test ongoing | N | / | / | Not referred |
| 20 | M | 21 | CVID | ITP; LRTI; URTI; bronchiectasis; bone marrow hypoplasia; mycobacterial infection; vitiligo | / | Novel unpublished NFKB1 variant: functional test ongoing | Y | / | RTX | Not referred |
| 21 | F | 36 | CVID | Thrombocytopenia | Past melanoma | Heterozygous CTLA4 missense VoUS: c.224G>A; p.R75Q and heterozygous PTEN missense VoUS: c.596T>C p.M199T |
N | / | / | Rhinitis and sore throat |
XLA, X-linked agammaglobulinemia; unPAD, unclassified antibody deficiency; LRTI, lower respiratory tract infection; COPD, chronic obstructive pulmonary disease; ICS-LABA, inhaled corticosteroid and long-acting β2-agonist; CVID, common variable immunodeficiency; URTI, upper respiratory tract infection; UTI urinary tract infection; SSZ, sulfasalazine; Anti-TNF agents, anti-tumor necrosis factor agents; DMARDs, disease-modifying anti-rheumatic drugs; RTX, rituximab; R-CHOP chemotherapy, (Rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) chemotherapy; IVIG, intravenous immunoglobulin; HPV, human papilloma virus; ITP, immune thrombocytopenia; MMF, mycophenolate mofetil; GI, gastrointestinal infection; HP, Helicobacter pylori; R-CODOX M, R-Rituximab C—cyclophosphamide and cytarabine O—vincristine, also known as oncovin DOX—doxorubicin M—methotrexate chemotherapy.
*CVID NGS panel available on Cifaldi et al., 2019 https://doi.org/10.3389/fimmu.2019.00316.
**CID NGS panel available on Cifaldi et al., 2019 https://doi.org/10.3389/fimmu.2019.00316.
***Haloplex NGS panel available on Cifaldi et al., 2019 https://doi.org/10.3389/fimmu.2019.00316 (18).