GATA 2 transcription factor deficiency predisposing to severe disseminated Coccidioidomycosis
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1
University of Medicine and Dentistry of New Jersey, United States
Severe disseminated coccidioidomycosis is rare, while localized disease is more commonly seen. We report the case of a 28-year-old man with severe disseminated coccidioidomycosis who was found to have an underlying GATA 2 (3q21.3) transcription factor deficiency. This case illustrates that when a patient presents with invasive fungal disease without clear predisposing factors, the clinician should consider underlying immunodeficiencies so that proper treatment may be initiated to control spread of the disease to other organs and prevent further complications. Interferon-gamma plays a vital role in anti-fungal immunity, and is involved in both innate and active immune responses. GATA2, a transcription factor active in myeloid development, has been shown to be crucial in anti-mycobacterial and anti-fungal immunity. Its deficiency has been reported to be associated with a rare immunodeficiency-MonoMAC syndrome. Since there are only a handful of cases, no standard guideline is available for the treatment of patients with GATA2 deficiency and disseminated fungal disease. The patient in this report was successfully treated with multiple anti-fungal medications and Interferon-gamma injections. Hematopoietic cell transplantation may serve as a last resort in the management of such patients. This report is intended to increase clinician awareness of the possibility of underlying immunodeficiency syndromes in patients who present with disseminated fungal disease with an unclear etiology and may provide insight in diagnosing and further managing patients with similar presentations.
References
1. Vinh DC, Schwartz B, Hsu AP, et al. Interleukin-12 receptor β1 deficiency predisposing to disseminated coccidioidomycosis. Clin Infect Dis. 2011;52:e99–102.
2. Vinh DC, Patel SY, Uzel G, et al. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood 2010; 115:1519.
3. Hsu AP, Sampaio EP, Khan J, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 2011; 118:2653.
4. Dickinson RE, Griffin H, Bigley V, et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 2011; 118:2656.
5. Cuellar-Rodriguez J, Gea-Banacloche J, Freeman AF, et al. Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Blood 2011; 118:3715.
Keywords:
Primary Immunodeficiencies,
GATA2 Transcription Factor,
Invasive fungal infection,
Interferon-gamma,
fungal immunity
Conference:
15th International Congress of Immunology (ICI), Milan, Italy, 22 Aug - 27 Aug, 2013.
Presentation Type:
Abstract
Topic:
Immune-mediated disease pathogenesis
Citation:
Imran
T and
Cui
C
(2013). GATA 2 transcription factor deficiency predisposing to severe disseminated Coccidioidomycosis.
Front. Immunol.
Conference Abstract:
15th International Congress of Immunology (ICI).
doi: 10.3389/conf.fimmu.2013.02.00408
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Received:
01 Apr 2013;
Published Online:
22 Aug 2013.
*
Correspondence:
Dr. Tasnim Imran, University of Medicine and Dentistry of New Jersey, Newark, United States, tasnimimran@gmail.com