GATA2 Deficiency


Engelsk definition

A rare disorder of the immune system with wide-ranging effects which include GATA2 Transcription Factor dysfunction, immunodeficiency, myelodysplastic syndrome (ineffective blood cell production), lung disease, and problems of the vascular and lymphatic system.

Svenska synonymer

Embergers syndrom Myelodysplastiskt syndrom/Akut myeloisk leukemi NK-cell brist

Engelska synonymer

GATA2 Deficiencies Immunodeficiency type 21 MonoMac Syndrome MonoMac Syndromes GATA2 Haploinsufficiency GATA2 Haploinsufficiencies Emberger Syndrome Primary Lymphedema with Myelodysplasia Myelodysplastic Syndrome Acute Myeloid Leukemia Natural Killer Cell Deficiency