Clinical features and GATA2 mutations identified in MonoMAC patients
| Pedigree No. . | Cytopenia . | Age* . | Infection . | MDS . | Mutation . | Mutation class . | Ref. . |
|---|---|---|---|---|---|---|---|
| Proband | |||||||
| 4.II.1 | T/B/NK/mono | 26 | CMV, MAC, recurrent pneumonias, histoplasmosis | MDS | c.1017+572C>T | i5 | 1 |
| 25.I.1 | T/B/NK/mono | 13 | HPV, Mycobacterium kansasii, MAC | MDS | c.1017+572C>T | i5 | |
| 11.II.1 | B/NK/mono | 9 | HPV, VZV, treatment-resistant Candida thrush and vaginitis | +Abnormal megakaryocytes | c.1017+572C>T | i5 | 1 |
| 28.I.1 | B/NK/mono | 21 | CMV pneumonia | +Abnormal megakaryocytes | c.1017+572C>T | i5 | |
| 6.II.1 | B/NK/mono | 22 | HPV, Group C Strep, M. tuberculosis | MDS | c.1017+512del28 | i5 | 1, 17 |
| 23.I.1† | T/B/NK | 21 | MAC | MDS | c.761C>T/unknown† | Unknown | 2 |
| 7.I.1 | T/B/NK/mono | 51 | HPV, M. kansasii | MDS | Unknown | Unknown | 1 |
| 29.I.1 | T/B/NK/mono | 45 | HPV | RAEB2 | Unknown | Unknown | |
| 8.I.1 | B/NK/mono | 28 | HPV, MAC, Aspergillus | MDS | c.243_244delAinsGC | Haplo | 2 |
| 13.II.1 | T/B/NK/mono | 33 | HPV, MAC, histoplasmosis, Neosartorya udagawae | MDS | c.1-200_871+527 del 2033bp | Haplo | 1, 2, 7 |
| 20.I.1 | T/B/NK/mono | 13 | Molluscum contagiosum, HPV, MAC | MDS | c.769_778dup | Haplo | 2 |
| 22.I.1 | T/B/NK/mono | 25 | HPV, M. kansasii | MDS | c.941_951dup | Haplo | 2 |
| 26.I.1 | B | 15 | HSV, CMV | AML | c.302delG | Haplo | |
| 27.I.1 | T/B/NK/mono | 46 | HPV, M. kansasii | None | c.586_593dup | Haplo | |
| 41.I.1 | B/NK/mono | 9 | HSV | MDS | c.1009C>T; R337× | Haplo | |
| 2.II.3 | T/B/NK/mono | 36 | NTM, histoplasmosis | MDS | c.1192C>T; R398W | Mis | 1 |
| 5.II.1 | T/B/NK/mono | 19 | NTM | RAEB2 | c.1061C>T; T354M | Mis | 1 |
| 9.III.1 | B/NK/mono | 8 | Warts | MDS | c.1192C>T; R398W | Mis | 1 |
| 15.I.1 | B/NK/mono | 3 | NTM, HSV | MDS | c.1186C>T; R396W | Mis | 1,2 |
| 19.II.1 | B/NK/mono | 20 | NTM, EBV | None | c.1061C>T; T354M | Mis | 2 |
| 30.II.1 | B/NK/mono | 21 | NTM, HSV | None | c.1163T>C; M388T | Mis | |
| 37.I.1 | T/B/NK/mono | 32 | M. kansasii, MAC | MDS | c.1081C>T; R361C | Mis | |
| Family member | |||||||
| 4.II.5 | B/NK | 19 | HPV | MDS | c.1017+572C>T | i5 | 1 |
| 4.I.1 | Monocytosis | 78 | None | CMML | c.1017+572C>T | i5 | 1 |
| 4.III.2 | NK | 23 | None | None | c.1017+572C>T | i5 | |
| 4.III.3 | NK | 21 | None | None | c.1017+572C>T | i5 | |
| 6.I.1 | ND | 13 | Lymphedema | ND | c.1017+512del28 | i5 | |
| 6.III.2 | None | 1.5 | None | ND | c.1017+512del28 | i5 | |
| 33.II.1 | Thrombo | 50 | None | ND | c.1-276T>G‡ | Unknown | |
| 13.I.2 | T/B/NK/mono | 61 | HPV, lymphedema | +Abnormal megakaryocytes | c.1-200_871+527 del 2033bp | Haplo | 1, 2, 7 |
| 1.II.5 | T/B/NK/mono | 49 | NTM, HPV | CMML | c.1192C>T; R398W | Mis | 1 |
| 30.I.1 | ND | 65 | None | None | c.1163T>C; p.M388T | Mis | |
| 33.III.3 | Mono | 9 | None | ND | c.1099insG; D367fs c.1-276T>G‡ | Mis | |
| 40.I.1 | B | 54 | None | None | c.1187G>A; R396Q | Mis |
| Pedigree No. . | Cytopenia . | Age* . | Infection . | MDS . | Mutation . | Mutation class . | Ref. . |
|---|---|---|---|---|---|---|---|
| Proband | |||||||
| 4.II.1 | T/B/NK/mono | 26 | CMV, MAC, recurrent pneumonias, histoplasmosis | MDS | c.1017+572C>T | i5 | 1 |
| 25.I.1 | T/B/NK/mono | 13 | HPV, Mycobacterium kansasii, MAC | MDS | c.1017+572C>T | i5 | |
| 11.II.1 | B/NK/mono | 9 | HPV, VZV, treatment-resistant Candida thrush and vaginitis | +Abnormal megakaryocytes | c.1017+572C>T | i5 | 1 |
| 28.I.1 | B/NK/mono | 21 | CMV pneumonia | +Abnormal megakaryocytes | c.1017+572C>T | i5 | |
| 6.II.1 | B/NK/mono | 22 | HPV, Group C Strep, M. tuberculosis | MDS | c.1017+512del28 | i5 | 1, 17 |
| 23.I.1† | T/B/NK | 21 | MAC | MDS | c.761C>T/unknown† | Unknown | 2 |
| 7.I.1 | T/B/NK/mono | 51 | HPV, M. kansasii | MDS | Unknown | Unknown | 1 |
| 29.I.1 | T/B/NK/mono | 45 | HPV | RAEB2 | Unknown | Unknown | |
| 8.I.1 | B/NK/mono | 28 | HPV, MAC, Aspergillus | MDS | c.243_244delAinsGC | Haplo | 2 |
| 13.II.1 | T/B/NK/mono | 33 | HPV, MAC, histoplasmosis, Neosartorya udagawae | MDS | c.1-200_871+527 del 2033bp | Haplo | 1, 2, 7 |
| 20.I.1 | T/B/NK/mono | 13 | Molluscum contagiosum, HPV, MAC | MDS | c.769_778dup | Haplo | 2 |
| 22.I.1 | T/B/NK/mono | 25 | HPV, M. kansasii | MDS | c.941_951dup | Haplo | 2 |
| 26.I.1 | B | 15 | HSV, CMV | AML | c.302delG | Haplo | |
| 27.I.1 | T/B/NK/mono | 46 | HPV, M. kansasii | None | c.586_593dup | Haplo | |
| 41.I.1 | B/NK/mono | 9 | HSV | MDS | c.1009C>T; R337× | Haplo | |
| 2.II.3 | T/B/NK/mono | 36 | NTM, histoplasmosis | MDS | c.1192C>T; R398W | Mis | 1 |
| 5.II.1 | T/B/NK/mono | 19 | NTM | RAEB2 | c.1061C>T; T354M | Mis | 1 |
| 9.III.1 | B/NK/mono | 8 | Warts | MDS | c.1192C>T; R398W | Mis | 1 |
| 15.I.1 | B/NK/mono | 3 | NTM, HSV | MDS | c.1186C>T; R396W | Mis | 1,2 |
| 19.II.1 | B/NK/mono | 20 | NTM, EBV | None | c.1061C>T; T354M | Mis | 2 |
| 30.II.1 | B/NK/mono | 21 | NTM, HSV | None | c.1163T>C; M388T | Mis | |
| 37.I.1 | T/B/NK/mono | 32 | M. kansasii, MAC | MDS | c.1081C>T; R361C | Mis | |
| Family member | |||||||
| 4.II.5 | B/NK | 19 | HPV | MDS | c.1017+572C>T | i5 | 1 |
| 4.I.1 | Monocytosis | 78 | None | CMML | c.1017+572C>T | i5 | 1 |
| 4.III.2 | NK | 23 | None | None | c.1017+572C>T | i5 | |
| 4.III.3 | NK | 21 | None | None | c.1017+572C>T | i5 | |
| 6.I.1 | ND | 13 | Lymphedema | ND | c.1017+512del28 | i5 | |
| 6.III.2 | None | 1.5 | None | ND | c.1017+512del28 | i5 | |
| 33.II.1 | Thrombo | 50 | None | ND | c.1-276T>G‡ | Unknown | |
| 13.I.2 | T/B/NK/mono | 61 | HPV, lymphedema | +Abnormal megakaryocytes | c.1-200_871+527 del 2033bp | Haplo | 1, 2, 7 |
| 1.II.5 | T/B/NK/mono | 49 | NTM, HPV | CMML | c.1192C>T; R398W | Mis | 1 |
| 30.I.1 | ND | 65 | None | None | c.1163T>C; p.M388T | Mis | |
| 33.III.3 | Mono | 9 | None | ND | c.1099insG; D367fs c.1-276T>G‡ | Mis | |
| 40.I.1 | B | 54 | None | None | c.1187G>A; R396Q | Mis |
Abbreviations: CMML, chronic myelomonocytic leukemia; CMV, cytomegalovirus; Haplo, haploinsufficiency; HPV, human papillomavirus; HSV, herpes simplex virus; i5, intron 5 mutation; Mis, missense mutation.
Approximate age (y) at presentation or age at diagnosis if initial presentation unknown.
Previously reported as missense mutation; however, functional studies have demonstrated loss of expression of 1 allele.
Change in 5′ UTR of undetermined significance.