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GATA2 deficiency
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GATA2 deficiency

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Contributors: Keith Morley MD, Jennifer Huang MD, Birgitta Schmidt MD, Susan Burgin MD
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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

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Human immunodeficiency virus (HIV) infection – Should be excluded given that disseminated atypical mycobacterial and opportunistic fungal infections are well known to occur in patients with advanced HIV/AIDS.
  • Severe combined immunodeficiency disease – Heterogenous group of disorders resulting in severe dysfunction of T and B cells. Diagnosis made on direct gene analysis.
  • Myelodysplastic syndrome – May occur secondary to many exposures such as radiation, alkylating chemotherapeutic agents, or genetic conditions (eg, Fanconi anemia).
  • Ataxia telangiectasia – Similar to GATA2 deficiency, gene mutations also predispose to sinopulmonary infections, Epstein-Barr virus viremia, and increased risk for malignancies.
  • Wiskott-Aldrich syndrome – X-linked recessive disease affecting males almost exclusively. Manifests as persistent atopic dermatitis, increased susceptibility to infections (viral and bacterial), and thrombocytopenia.

Best Tests

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Therapy

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References

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Last Updated: 08/30/2018
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GATA2 deficiency
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GATA2 deficiency (Emberger Syndrome) : CD4 low, Webbed neck, Lymphocytopenia, Plantar feet, Palms, Verrucous scaly papules, Verrucous scaly plaques
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