Immunodeficiency 21

Biron CA et al. (1989) Severe herpesvirus infections in an adolescent without natural killer cells.

Vinh DC et al. (2010) Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

Bigley V et al. (2011) The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency.

Hsu AP et al. (2011) Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Dickinson RE et al. (2011) Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Johnson KD et al. (2012) Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity.

Mace EM et al. (2013) Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

Cuellar-Rodriguez J et al. (2011) Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

Spinner MA et al. (2014) GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

OMIM.ORG article

Wikipedia article