Table 3.
Phenotypic and genotypic features of known patients with disease-causing variants in IRF2BP2.
| Family | Patient | Sex (age) | Variant | Zygosity | Inheritance | Infections | Diagnoses | Immuno- phenotype |
Inflammatory Manifestations | Other | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A | A.1 | F (24) | p.Ser551Asn | Het | Autosomal dominant | Recurrent sinus infections since childhood | CVID | Normal B-cells. Decrease switched memory B-cells. Hypogamma-globulinemia, Poor vaccine responses | Colitis and chronic diarrhea | – | Keller et al., (11) |
| A | A.2 (index’s brother) | M (16*) | p.Ser551Asn | Het | Autosomal dominant | Chronic sinus infections | CVID | Normal B-cells. Hypogamma-globulinemia | – | – | Keller et al., (11) |
| A | A.3 (index’s father) | M (16) |
p.Ser551Asn | Het | Autosomal dominant | Recurrent sinus infections | CVID | Normal B-cells. Decrease switched memory B-cells. Hypogamma-globulinemia | – | – | Keller et al., (11) |
| B | B.1 | F (4) |
p.Gln536delins* | Het | De novo | Recurrent infections | – | Hypogamma-globulinemia | Chronic diarrhea | Severe eczema, anemia, failure to thrive, fevers, short stature, cataracts, hypodontia, hypotrichosis alopecia | Baxter et al., 2021 |
| C | C.1 | M (57) | p.Ala209Glnfs*31 | Het | Autosomal dominant | – | – | Lymphopenia, lymphadenopathy | Healing erosion in the duodenum, oral and genital ulcers, neutrophilic inflammation | Hidradenitis suppurativa, cholecystectomy, fatigue |
Palmroth et al., (6) |
| C | C.2 (index’s sister) |
F (71) | p.Ala209Glnfs*31 | Het | Autosomal dominant | – | – | Lymphopenia | – | Hidradenitis suppurativa, DM2, hyperthyroidism, diabetes mellitus type 2 | Palmroth et al., (6) |
| D | D.1 | M (33) | p.Gln540* | Het | De novo | Recurrent respiratory infections | CVID | Severe decrease switched memory B-cells. Hypogamma-globulinemia, impaired CTLA4 expression in Treg. |
Colitis, RA | – | Körholz et al., (13) |
| E | E.1 | M (22) | p. Thr147_Pro150dup | Het | Autosomal dominant | Recurrent infections | Autoimmune encephalopathy | Crohn’s disease | Recurrent fever, psychiatric symptoms | Pan et al., (14) | |
| 1 | 1.1 | F (42) | p.Pro73Serfs*72 | Het | Autosomal dominant | Recurrent respiratory and gastrointestinal infections | CVID | Decrease B-cells, decrease switched of B-cells, hypogamma-globulinemia | Severe colitis | – | This study |
| 1 | 1.2 (index’s father) | M | p.Pro73Serfs*72 | Het | Autosomal dominant | Recurrent respiratory infections | Hypogamma-globulinemia, | This study | |||
| 2 | 2.1 | M (31) | p.Ala110Argfs*48 | Het | De novo | Recurrent respiratory infections | CVID | Hypogamma-globulinemia, | Crohn’s disease. Intestinal resection | Spondylarthritis | This study |
| 3 | 3.1 | M | p.Glu105Alafs*24 | Het | Autosomal dominant | CVID | This study | ||||
| 4 | 4.1 | M | Del 1q42.2-42.3 | Het | De novo | Recurrent respiratory infections | CVID | Hypogamma-globulinemia, | Recurrent bronchiectasis | This study | |
| 5 | 5.1 | M | p.Arg585Thrfs*12 | Het | Autosomal dominant | Recurrent varicella-zoster virus (VZV) infection, recurrent respiratory infections | – | Normal B-cells. Normal immunoglobulin values. Poor vaccine responses | – | This study |
List of patients with LoF mutations in IRF2BP2. Families from A to E correspond to previously published patients. Families from 1 to 5 are reported in this study. CVID (common variable immunodeficiency, DM2 (dystrophia myotonica type 2), RA (rheumatoid arthritis).