Table I.
Summary of the CVID patients' clinical presentation and NFKB1 variants
| Case ID | Sporadic/familial | Infections | Autoimmunity | Malignancy | Chromosome 4 position (GRCh37) | Nucleotide change | Type of variant | cDNA (NM_003998.3); Amino acid |
|---|---|---|---|---|---|---|---|---|
| A | Familial | ● | 103504037 | C>T | Nonsense | c.850C>T;Arg284* | ||
| B | Familial | ● | ● | ○ | 103518717 | delCATGC | Frameshift | c.1539_1543del; His513Glnfs*28 |
| C | Familial | ● | ● | ●○ | 103459014 | G>A | Splice acceptor | c.160-1G>A;? |
| D | Familial | ● | ● | 103518801 | delGA | Nonsense | c.1621_1622del; Asp541* | |
| E | Sporadic | ● | ● | ○ | 103504030 | C>G | Missense | c.843C>G; Ile281Met |
| F | Sporadic | ● | ● | 103488178 | T>A | Missense | c.293T>A; Val98Asp | |
| G | Sporadic | ● | 103488145 | T>G | Missense | c.260T>G; Ile87Ser | ||
| H | Familial | ● | ● | 103501798 | T>C | Splice donor | c.835+2T>C;? | |
| I | Sporadic | ● | 103370996-103528207 | — | Large deletion | — | ||
| J | Familial | ● | 103517415 | delG | Frameshift | c.1423del; Ala475Profs*10 | ||
| K | Sporadic | ● | ● | ● | 103436974-103652655 | — | Large deletion | — |
| L | Familial | ● | ● | 103459041 | delG | Frameshift | c.187del; Glu63Lysfs*64 | |
| M | Sporadic | ● | ● | 103501790 | insA | Frameshift | c.830dup; Lys278Glufs*3 | |
| N | Sporadic | ● | ● | ● | 103504086 | insT | Frameshift | c.904dup; Ser302Phefs*7 |
| O | Sporadic | ● | 103488180 | C>T | Nonsense | c.295C>T; Gln99* | ||
| P | Sporadic | ● | ● | 103505914 | delG | Frameshift | c.1005del; Arg336Glyfs*96 |
●, Presence of symptoms in index patient; ○, presence of symptoms in family member of index patient.