GATA2 Deficiency Causes Severe, Persistent HPV Infections [19E]

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Immunocompromised females are at increased risk for recurrent, multifocal Human Papillomavirus (HPV)-associated dysplasia and malignancy. Deficiency of GATA2, a hematopoietic transcription factor, is associated with myeloid malignancy, chronic leukocytopenia and intracellular infections. We sought to determine the risk of persistent, severe HPV disease in GATA2 deficient female patients.


NIH medical records of females with GATA2 deficiency, including laboratories, histopathology and cytopathology were retrospectively reviewed.


Of 35 females with GATA2 deficiency, 27 (77%) were diagnosed with HPV: 23 (66%) with genital warts and 19 (54%) with extragenital warts. Median age of onset was 12 y (r: 6–39 y) for genital warts and 10 y (r: 6–39 y) for extragenital warts. Overall 18 (67%) of the HPV+ patients developed dysplasia: vulvar in 12 (67%) and cervical in 15 (83%). Median age of diagnosis for dysplasia was 27 y (r: 15–59 y). Median age of genital cancer diagnosis was 34 y (r: 22–40 y). 83% of patients with dysplasia (n=15) had laser ablation or surgical excision, undergoing multiple procedures (r: 1–40) by the age of 40.


GATA2 deficiency causes persistent, severe, multifocal HPV disease in women. GATA2 deficiency requires earlier, more frequent HPV disease surveillance to prevent disease progression and thereby limit the need for repeated surgery. GATA2 deficiency should be considered in young women with unusually severe HPV disease.

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