GATA2 Deficiency Presenting With a WHIM‐Like Phenotype and Subsequent Development of Monosomy 7‐Associated Myelodysplastic Syndrome in an Adolescent Female: A Case Report

Abstract

ABSTRACT We report an 18‐year‐old female with GATA2 deficiency presenting with a WHIM‐like phenotype, including pancytopenia, monocytopenia, CD19+ B‐cell depletion, sensorineural hearing loss, and cutaneous warts. Subsequent cytogenetic evaluation revealed monosomy 7 and 7q22 deletion, with bone marrow progression to MDS. She was treated with azacitidine and referred for allogeneic HSCT.