Clinical and laboratory characteristics of patients with GATA2 deficiency
| Patient . | Age, y /sex . | Variant . | Family history . | BM diagnosis, cellularity, % . | Cytogenetics . | Infection . | Other clinical features . | |
|---|---|---|---|---|---|---|---|---|
| Nucleotide . | Amino acid . | |||||||
| 1 | 17/F | c.1017G>T | p.S340Vfs*48 | + | Hypoplastic MDS, 30% | 45,XX,–7[11]/47,XX,+8[1]/46,XX[8] | No | |
| 2 | 42/F | c.1017G>T | p.S340Vfs*48 | + | Hypoplastic MDS, 30% | 47,XX,+8[17]/46,XX[3] | No | |
| 3 | 22/F | c.1061C>A | p.T354K | + | Hypoplastic MDS, 20%-30% | Normal | MAC, Aspergillus | Pulmonary fibrosis |
| 4 | 32/F | c.1192C>T | p.R398W | – | Hypoplastic MDS, 5-10%, 20% | Normal | HPV genital, EBV | |
| 5 | 33/F | c.1017+572C>T | + | Hypoplastic MDS, 40% | Normal | Warts, lung infections, pyoderma gangrenosum and panniculitis, oral thrush, and herpes | ||
| 6 | 13/M | c.1021delG | p.A341Pfs*46 | – | Hypoplastic MDS, 20%-25% | Normal | Warts, cellulitis, respiratory infections | Emberger syndrome |
| 7 | 14/M | c.1150delA | p.R384Gfs*3 | – | Hypoplastic MDS, 30% | Normal | No | Mediastinal T cell lymphoma, deafness, and lupus pernio |
| 8 | 39/M | c.1081C>T | p.R361C | + | Hypoplastic MDS, 15%-20% | 47,XY,+1,der(1;7)(q10;p10),+8[6]/46,XY[14] | No | |
| Patient . | Age, y /sex . | Variant . | Family history . | BM diagnosis, cellularity, % . | Cytogenetics . | Infection . | Other clinical features . | |
|---|---|---|---|---|---|---|---|---|
| Nucleotide . | Amino acid . | |||||||
| 1 | 17/F | c.1017G>T | p.S340Vfs*48 | + | Hypoplastic MDS, 30% | 45,XX,–7[11]/47,XX,+8[1]/46,XX[8] | No | |
| 2 | 42/F | c.1017G>T | p.S340Vfs*48 | + | Hypoplastic MDS, 30% | 47,XX,+8[17]/46,XX[3] | No | |
| 3 | 22/F | c.1061C>A | p.T354K | + | Hypoplastic MDS, 20%-30% | Normal | MAC, Aspergillus | Pulmonary fibrosis |
| 4 | 32/F | c.1192C>T | p.R398W | – | Hypoplastic MDS, 5-10%, 20% | Normal | HPV genital, EBV | |
| 5 | 33/F | c.1017+572C>T | + | Hypoplastic MDS, 40% | Normal | Warts, lung infections, pyoderma gangrenosum and panniculitis, oral thrush, and herpes | ||
| 6 | 13/M | c.1021delG | p.A341Pfs*46 | – | Hypoplastic MDS, 20%-25% | Normal | Warts, cellulitis, respiratory infections | Emberger syndrome |
| 7 | 14/M | c.1150delA | p.R384Gfs*3 | – | Hypoplastic MDS, 30% | Normal | No | Mediastinal T cell lymphoma, deafness, and lupus pernio |
| 8 | 39/M | c.1081C>T | p.R361C | + | Hypoplastic MDS, 15%-20% | 47,XY,+1,der(1;7)(q10;p10),+8[6]/46,XY[14] | No | |
No known somatic mutations were detected by whole exome sequencing (data not shown). Patients received supportive treatment while seeking HSC transplantation.
+, positive; –, negative; EBV, Epstein-Barr virus; F, female; HPV, human papilloma virus; M, male; MAC, Mycobacterium avium complex.