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Author

Meshkat Poortavakol

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Open access Nov 2026

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 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 M...

Aziz Eghbali, Meshkat Poortavakol, Hamideh Sadat Mirmohammadi · 0 citations

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