Table 1 History and clinical characteristics of the four patients: Patients 1 and 2 were the previously reported mutations, Patients 3 and 4 were the novel mutations
Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
|---|---|---|---|---|
Gender | Male | Male | Female | Female |
Age at presentation | 1 month | 1.5 months | 21 days | 1.9 years |
Infection | Diarrhea, Pseudomonas aeruginosa pneumonia, Candida infection | Peritonitis, sepsis, pneumonia, skin, and liver abscess | Umbilical cord infection, gum infection, Pseudomonas aeruginosa sepsis, pneumonia | Pneumonia, cellulitis, abscesses, diarrhea, and otitis media |
Initial ANC (/cu mm) | 42 | 180 | 300 | 150 |
Clinical diagnosis | Severe congenital neutropenia | Cyclic neutropenia | Severe congenital neutropenia | Cyclic neutropenia |
Bone marrow examination | Maturation arrest at promyelocyte | Maturation arrest at promyelocyte | Maturation arrest at promyelocyte | Maturation arrest at myelocyte |
GCSF dosage (mcg/kg/day) | 10 | 10 | 5 | 5.7 |
Other treatment | Haploidentical stem cell transplantation | None | None | None |
FU time (year) | 15.7 | 13.1 | 6.1 | 8 |
Outcome | Alive | Alive | Alive | Alive |
Genetic study ELANE (NM_001972.4) | c.253G > A p.Gly85Arg, exon 3 | c.301G > A p.Val101Met, exon 3 | c.234_236delCGC p.Ala79del, exon 3 | c.589_590insAGGCCGGC p.Val197GlufsTer18, exon 4 |
ACMG criteria | Previously reported mutation | Previously reported mutation | Likely pathogenic variant (PM1, PM4, PM2, PVS1, BP4) | Pathogenic variant (PVS1, PM2, PS2) |
Parent(s) | Mother: normal | Mother and father: normal | ND | Mother and father: no mutation |