Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Immundefekt 21

Die Immundefizienz 21 ist eine autosomal dominante Erkrankung die durch Mutationen im GATA2-Gen ausgelöst wird.

Gliederung

Primärer Immundefekt
Erbliche Infektionsanfälligkeiten
Immundefekt 21
GATA2
Immundefekt 31A
Immundefekt 31B
Immundefekt 31C
Syndrom der zentromeren Instabilität mit Immundefizienz und Gesichtsfehlbildungen
Wiskott-Aldrich-Syndrom

Referenzen:

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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