MonoMAC syndrome with GATA2 novel mutation: A case report
GATA2 deficiency was first identified in 2011 and have been reported over 500 individuals with GATA2 mutations. The onset of symptoms ranges from early childhood to late adulthood but very often the diagnosis is made between adolescence and early adulthood. These patients can be relatively asymptoma...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-01-01
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| Series: | Leukemia Research Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213048922000589 |
| _version_ | 1811179048568619008 |
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| author | Petra Belohlavkova Katerina Hrochova Ilona Fatorova Pavel Zak |
| author_facet | Petra Belohlavkova Katerina Hrochova Ilona Fatorova Pavel Zak |
| author_sort | Petra Belohlavkova |
| collection | DOAJ |
| description | GATA2 deficiency was first identified in 2011 and have been reported over 500 individuals with GATA2 mutations. The onset of symptoms ranges from early childhood to late adulthood but very often the diagnosis is made between adolescence and early adulthood. These patients can be relatively asymptomatic or have life threatening diseaseas (myelodysplastic syndrome, acute leukemia). We describe case of 30-years old women with GATA2 novel mutation who present by primary lymphedema, myelodysplastic changes in bone marrow, monocytopenia and history of several recurrent infections (bacterial, mycobacterial). The case illustrates the diagnostic difficulties in identifying GATA2 deficiencies. |
| first_indexed | 2024-04-11T06:28:03Z |
| format | Article |
| id | doaj.art-23a0307ae26845b4ac74e87e5281183c |
| institution | Directory Open Access Journal |
| issn | 2213-0489 |
| language | English |
| last_indexed | 2024-04-11T06:28:03Z |
| publishDate | 2022-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Leukemia Research Reports |
| spelling | doaj.art-23a0307ae26845b4ac74e87e5281183c2022-12-22T04:40:15ZengElsevierLeukemia Research Reports2213-04892022-01-0118100346MonoMAC syndrome with GATA2 novel mutation: A case reportPetra Belohlavkova0Katerina Hrochova1Ilona Fatorova2Pavel Zak34th Department of Internal Medicine – Haematology, Charles University Hospital Hradec Kralove, Czech Republic; Corresponding author.Institute of Clinical Biochemistry and Diagnostics, Charles University Hospital Hradec Kralove, Czech Republic4th Department of Internal Medicine – Haematology, Charles University Hospital Hradec Kralove, Czech Republic4th Department of Internal Medicine – Haematology, Charles University Hospital Hradec Kralove, Czech RepublicGATA2 deficiency was first identified in 2011 and have been reported over 500 individuals with GATA2 mutations. The onset of symptoms ranges from early childhood to late adulthood but very often the diagnosis is made between adolescence and early adulthood. These patients can be relatively asymptomatic or have life threatening diseaseas (myelodysplastic syndrome, acute leukemia). We describe case of 30-years old women with GATA2 novel mutation who present by primary lymphedema, myelodysplastic changes in bone marrow, monocytopenia and history of several recurrent infections (bacterial, mycobacterial). The case illustrates the diagnostic difficulties in identifying GATA2 deficiencies.http://www.sciencedirect.com/science/article/pii/S2213048922000589GATA2 deficiencyMonoMAC syndromeMyelodysplastic syndrome |
| spellingShingle | Petra Belohlavkova Katerina Hrochova Ilona Fatorova Pavel Zak MonoMAC syndrome with GATA2 novel mutation: A case report Leukemia Research Reports GATA2 deficiency MonoMAC syndrome Myelodysplastic syndrome |
| title | MonoMAC syndrome with GATA2 novel mutation: A case report |
| title_full | MonoMAC syndrome with GATA2 novel mutation: A case report |
| title_fullStr | MonoMAC syndrome with GATA2 novel mutation: A case report |
| title_full_unstemmed | MonoMAC syndrome with GATA2 novel mutation: A case report |
| title_short | MonoMAC syndrome with GATA2 novel mutation: A case report |
| title_sort | monomac syndrome with gata2 novel mutation a case report |
| topic | GATA2 deficiency MonoMAC syndrome Myelodysplastic syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S2213048922000589 |
| work_keys_str_mv | AT petrabelohlavkova monomacsyndromewithgata2novelmutationacasereport AT katerinahrochova monomacsyndromewithgata2novelmutationacasereport AT ilonafatorova monomacsyndromewithgata2novelmutationacasereport AT pavelzak monomacsyndromewithgata2novelmutationacasereport |