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