Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Immunodeficiency 21

Immunodeficiency 21 is an autosomal dominant disorder caused by mutations of the GATA2 gene.

Systematic

Primary immunodeficiency
Achondroplasia-SCID syndrome
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Hereditary susceptibility to infections
Immunodeficiency 20
Immunodeficiency 21
GATA2
Immunodeficiency 31A
Immunodeficiency 31B
Immunodeficiency 31C
Immunodeficiency-centromeric instability-facial anomalies syndrome
Variable immunodeficiency type 7
Vasculitis due to ADA2 deficiency
Wiskott–Aldrich syndrome

References:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

OMIM.ORG article

Omim 614172 [^]
11.

Wikipedia article

Wikipedia EN (MonoMAC) [^]
Update: April 29, 2019