GATA2 deficiency presenting as fever and rash
American Journal of the Medical Sciences
; 365(Supplement 1):S208, 2023.
Article
in English
| EMBASE | ID: covidwho-2230325
ABSTRACT
Case Report Our patient is an 8-year-old Caucasian female with a history of choanal atresia, first degree heart block, recurrent urinary tract infections, and recent COVID-19 infection, who initially presented with an episode of syncope and vomiting. By history, she had two weeks of daily fever and an intermittent nonspecific rash. She was diagnosed with a UTI 5 days prior to presentation but had not defervesced despite treatment. Shewas initially found to be in shock with tachycardia and poor perfusion and was treated with fluid resuscitation, antipyretics, and empiric antibiotics. Labs were significant for leukopenia, elevated inflammatory markers, lactic acidosis, coagulopathy, and mildly elevated troponin. Chest x-ray showed abnormal but non-specific widespread infiltrates. She was initially treated with IVIG and pulse steroids for a working diagnosis of MIS-C, however she did not improve and a more extensive infectious, oncologic, and rheumatologic work-up was performed. Her workup revealed a disseminated Mycobacterium abscessus infection. Bone marrow biopsy revealed myelodysplasia with monosomy 7. Her buccal swab testing revealed a heterozygous germline mutation in the GATA2 gene, a variant that is predicted to cause loss of normal protein function. She is presently on multidrug regimen for her mycobacterial infection. Her myelodysplasia evolved into an acute leukemia, and she is undergoing chemotherapy for that at this time. Discussion(s) GATA2 deficiency, first identified in 2011, is a rare immune disorder resulting in a wide variety of clinical presentations. It is caused by a germline mutation of the GATA2 gene that disrupts blood cell differentiation, resulting in decreased or absent monocytes, B cells, NK cells, and dendritic cells1. This case presented multiple challenges due to the broad range of differential diagnoses. This patient was ultimately diagnosed with myelodysplastic syndrome associated with monosomy 7 and GATA2 deficiency, confirmed by FISH testing. Due to the presentation and lab derangements this patient had, there was a delay in targeted treatment while managing her cytopenias and presumed pulmonary infection. GATA2 deficiency carries a high risk of progression from myelodysplastic syndrome to acute myelogenous leukemia. The best long-term treatment for GATA2 deficiency is hematopoietic stem cell transplant, which is the ultimate goal for our patient. Copyright © 2023 Southern Society for Clinical Investigation.
acute leukemia; acute myeloid leukemia; B lymphocyte; blood cell; blood clotting disorder; bone marrow biopsy; buccal swab; cancer chemotherapy; cancer growth; cancer patient; cancer recurrence; case report; Caucasian; cell differentiation; child; choana atresia; clinical article; conference abstract; coronavirus disease 2019; cytopenia; dendritic cell; diagnosis; differential diagnosis; drug combination; faintness; female; fever; fluid resuscitation; GATA2 deficiency; gene mutation; genetic association; germline mutation; heart block; hematopoietic stem cell; heterozygosity; human; human cell; immunopathology; lactic acidosis; leukopenia; long term care; lung infection; monocyte; monosomy 7; mycobacteriosis; Mycobacterium abscessus infection; myelodysplastic syndrome; natural killer cell; perfusion; protein function; rash; school child; surgery; tachycardia; thorax radiography; transplantation; urinary tract infection; vomiting; antibiotic agent; antipyretic agent; endogenous compound; human immunoglobulin; steroid; transcription factor GATA 2; troponin
Full text:
Available
Collection:
Databases of international organizations
Database:
EMBASE
Type of study:
Diagnostic study
/
Prognostic study
Topics:
Variants
Language:
English
Journal:
American Journal of the Medical Sciences
Year:
2023
Document Type:
Article
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