Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (7)

GATA2 deficiency
Other Resources UpToDate PubMed

GATA2 deficiency

Contributors: Keith Morley MD, Jennifer Huang MD, Birgitta Schmidt MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

GATA2 deficiency is a rare autosomal dominant condition due to haploinsufficiency of the GATA2 gene that typically presents later in life (median age of 20 at initial presentation). The GATA2 gene encodes a zinc finger transcription factor that serves a critical role in hematopoietic regulation as well as vascular and lymphatic development. Mutation is characterized by profoundly decreased or absent monocytes, dendritic cells, natural killer cells, and B cells.

The GATA2 mutation has been found to underlie at least 5 previously described conditions that are now recognized as phenotypic variants of the same genetic disorder. Specifically, these include monocytopenia and Mycobacterium avium complex infection (MonoMAC) syndrome; dendritic cell, monocyte, B and NK lymphoid deficiency; familial myelodysplastic syndrome / acute myeloid leukemia; Emberger syndrome (primary lymphedema with myelodysplasia); and classical NK-cell deficiency. As these names suggest, GATA2 deficiency causes a primary immunodeficiency associated with disseminated opportunistic infections and lymphoproliferative disorders.

Affected patients are at increased risk for multiple infections including nontuberculous mycobacteria, disseminated opportunistic and invasive fungi, and severe / recalcitrant herpesvirus and papillomavirus disease. Over half of all patients will develop myelodysplastic syndrome, with a smaller proportion going on to develop acute myeloid leukemia or chronic myelomonocytic leukemia. Multiple cutaneous malignancies have also been described, typically those associated with a viral pathogenesis such as human papillomavirus-associated squamous cell carcinoma, Merkel cell carcinoma (Merkel cell polyomavirus), and Epstein-Barr virus-positive smooth muscle tumors.

Codes

ICD10CM:
D84.9 – Immunodeficiency, unspecified

SNOMEDCT:
414393003 – Hereditary disorder of cellular component of blood

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

Subscription Required

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated:08/29/2018
Copyright © 2024 VisualDx®. All rights reserved.
GATA2 deficiency
A medical illustration showing key findings of GATA2 deficiency (Emberger Syndrome) : CD4 low, Webbed neck, Lymphocytopenia, Plantar feet, Palms, Verrucous scaly papules, Verrucous scaly plaques
Copyright © 2024 VisualDx®. All rights reserved.