Table 2.
Clinical presentation of genetic SNM1C/Artemis mutation in human.
| Mutation SNM1C/Artemis | Immune deficit | Clinical manifestations | Population | Ref |
|---|---|---|---|---|
| Deletion (exons 1–4, C279T; Genomic Deletion (exons 5–6) | B and T cell deficit | Early onset of severe infection | Athabascan-speaking, Navajo and Apache Native Americans | (47, 50) |
| Exon 11 splice donor (G→C); C279T | Severe oral and genital ulcer | Very high incidence: 1:2000 | ||
| Exon 10 splice donor (G→A) | ||||
| Exon 5 splice donor (G→T) | ||||
| Deletion (exons 1–4) | ||||
| Del G818 | ||||
| Deletion (exons 5–8) | ||||
| Heterozygous and homozygous mutation (genomic exon 3 deletion; 2-nt insertion between T1205 and G1206) | Hypogammaglobulinemia | Otitis/diarrhea/stomatitis | 2 & 3 months | (51) |
| Deletion exons 10, 11, and 12 | B-cell differenciation arrest | Pneumocystis, CMV, VZV | 1 day to 5 months | (52) |
| G>T mutation at position 47 in exon 5 | ||||
| G>T mutation at position 47 in exon 5 homozygous G>A mutation at position 42 in exon 6 | ||||
| Hypomorphic mutation (unprecised) | B and T cell lymphopenia and hypogammaglobulinemia | EBV associated disseminated B-cell lymphoma | NA | (53) |
| Hypomorphic DCLRE1C mutation | Antibody deficiency very low B-cell numbers and serum IgA levels | Recurrent respiratory tract infections, gastroenteritis, mycobacterial skin infection, otitis media, severe varicella, verruca vulgaris, aphtous stomatitis, granulomatous skin lesions, Hashimito thyroiditis, juvenile idiopathic arthritis | 2-10 years | (54) |
| Hypomorphic DCLRE1C mutation | Chronic lymphopenia | Chronic ulcerating intestinal inflammation | 6 years | (43) |
| Deletion in exon 14; c.1464delG; p.Gln488Fs | Hyper IgM syndrome, low IgG and IgA | Diarrhea, CMV, sclerosing cholangitis | 6 & 5 year old | (55) |
| Large granular lymphocytic leukemia, death | ||||
| Homologous deletion of the gene 3 of SNM1C/Artemis, DCLRE1C | NA | Pneumocystis | 5 months | (56) |
| Mutation (c. 194C > T and c. 194C > T) | Poor antibody response | Chronic post vaccinal rubella virus infection (granulomatous dermatitis) | 13 years | (57) |
CMV, cytomegalovirus, VZV, varicella zooster virus, EBV, Epstein Barr virus, Ig, immunoglobulin; DCLRE1C, DNA, cross-link repair 1C.