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with Mycobacterium Avium Complex), DCML (dendritic cell monocyte and lymphoid deficiency) and Emberger syndrome (sensorineural deafness, congenital lymphedema and viral warts). This is a sporadic entity with autosomal dominant inheritance.… Click to show full abstract
with Mycobacterium Avium Complex), DCML (dendritic cell monocyte and lymphoid deficiency) and Emberger syndrome (sensorineural deafness, congenital lymphedema and viral warts). This is a sporadic entity with autosomal dominant inheritance. Germline GATA 2 mutations are the most common defect predisposing to pediatric myelodysplastic syndrome with a high prevalence of monosomy 7 thus mandating its evaluation in every case of monosomy 7 associated MDS [3]. Allogeneic hematopoietic stem cell transplantation is the only curative option for both immunodeficiency as well as MDS/AML [4-6].
Journal Title: Indian Pediatrics
Year Published: 2020
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