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
Hereditary susceptibility to infections
Immunodeficiency 21
GATA2
Immunodeficiency 31A
Immunodeficiency 31B
Immunodeficiency 31C
Immunodeficiency-centromeric instability-facial anomalies syndrome
Wiskott–Aldrich syndrome

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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Update: Sept. 26, 2018