Table 3.
Pathogenic or likely pathogenic variants in the 3 patients' exomes including cytokinome profiles
| Genea (mutation/variant) | Disease associationa | Patient IV.1 | Patient IV.2 | Patient IV.6 |
|---|---|---|---|---|
| G6PC3:NM_138387:exon4:c.479C > T:p.S160L | SCN4 (AR), Dursun syndrome | hmz | hmz | hmz |
| MPL:NM_005373:exon4:c.398C > T:p.P133L | CAMT (AR), thrombocythemia (AD), MFMM (som) | wt | wt | het |
| HBG1:NM_000559:c.6_a3delinsCTCT | HbF (QTL1) | hmz | hmz | hmz |
| KLF1:NM_006563:exon2:12996130-12996956:-14:840 | HPFH (AD), CDA type 4 | wt | wt | hmz |
| MS4A2 (FCER1B): NM_001256916:exon6:c.575A > G:p.E192G | susceptibility to atopy | het | wt | hmz |
| CCL15:NM_032965:exon1:c.5A > T:p.K2M | None | hmz | hmz | hmz |
| CXCR2:NM_001557:exon3:c.1075A > T:p.T359S | None | wt | het | het |
| IFNAR1:NM_000629:exon8:c.1143 + 12G > A | None | het | wt | wt |
| IFNAR2:NM_000874:exon7:c.611C > G:p.T204R | IMD45 (AR) | het | wt | wt |
| IFNW1:NM_002177:exon1:c.247A > G:p.M83V | None | wt | wt | het |
| IL10RA:NM_001558:exon1:c.67 + 11G > C | IBD28 (AR) | het | wt | het |
| IL16:NM_172217:exon4:c.643T > C:p.S215P | None | het | wt | het |
| IL18R1:NM_003855:exon6:c.626-7C > T | None | het | wt | het |
| IL1R1:NM_001288706:exon12:c.1211-4T > C | None | het | wt | het |
| IL1RL1:NM_016232:exon11:c.1501_1502delinsAG | None | het | wt | het |
| IL21R:NM_021798:exon9:c.1381dupG:p.A460fs | IMD56 (AR), high IgE (AD) | het | wt | wt |
AD, autosomal dominant; AR, autosomal recessive; CAMT, congenital amegakaryocytic thrombocytopenia; CDA, congenital dyserythropoietic anemia; CCL15, chemokine, cc motif, ligand 15; CXCR2, chemokine, CXC motif, receptor 2; G6PC3, glucose-6-phosphatase catalytic 3; HBG1, hemoglobin gamma A; het, heterozygous mutant; hmz, homozygous mutant; HPFH, hereditary persistent fetal hemoglobin; IBD, inflammatory bowel disease; IMD, immunodeficiency; IFNAR1, interferon-alpha-beta- and omega receptor 1; IFNAR2, interferon-alpha-beta- and omega receptor 2; IFNW1, interferon, omega-1; IL10RA, interleukin 10 receptor alpha; IL16, interleukin 16; IL18R1, interleukin 18 receptor-1; IL1R1, interleukin 1 receptor-1; IL1RL1, interleukin 1 receptor-like 1; IL21R, interleukin-21 receptor; KLF1, Kruppel-like factor 1; MFMM, myelofibrosis with myeloid metaplasia; MPL, myeloproliferative virus oncogene; QTL, quantitative trait locus; SCN, severe congenital neutropenia; som, somatic; wt, wild type.
Cytokinome refers to patient-specific rare DNA variants.
Disease-gene association data are based on OMIM database “www.omim.org”.