GATA2 deficiency syndrome

Also known as: Emberger syndrome; MonoMAC syndrome

Immunodeficiency with myelodysplasia, monocytopenia and lymphedema.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, adolescence
Gene(s) involved: GATA2

Etiology & mechanism

GATA2 haploinsufficiency.

Gene(s) involved (1)

GATA2

Symptoms & signs (6)

deafnesslymphedemamonocytopeniamyelodysplasiapulmonary alveolar proteinosisrecurrent mycobacterial infections

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