Deficiency of adenosine deaminase 2 (DADA2) presenting as myelodysplastic syndrome


Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder characterized by clinical manifestations presenting at the first decade of life, with a variety of symptoms related to vasculopathy and inflammation, bone marrow failure or immunodeficiency with overlap phenotypes. Myelodysplastic syndromes are characterized by progressive cytopenia, dysplasia in one or more of the major myeloid cells lines, ineffective hematopoiesis and acute myeloid leukemia transformation risk.


26 year old female, presenting at 12 years old with fever, myalgias, arthralgias, adenopathies and ecchymosis; after some studies she was diagnosed with Common Variable Immunodeficiency (CVID) associated to myelodysplasia and started treatment with human immunoglobulin and filgrastim. Throughout the course of life she presented gelastic seizures, hypogammaglobulinemia, recurrent infections, gingivorrhagia, pyoderma gangrenosum, pilonidal disease, hidradenitis suppurativa, reticular lyvedo and Raynaud’s phenomenon. She required abdominal surgery due to an ovarian cyst, however got complicated with septic shock and wound dehiscence, therefore her case was analized one more time, and a genetic panel show a pathogenic alteration in ADA2.


DADA2 is a rare disease, firstly described as small-medium vessel vasculitis syndrome presenting with recurrent episodes of fever, early onset stroke and skin involvement including reticular lyvedo, Raynaud’s phenomenon and polyarteritis nodosa, all of which were found in our patient at adulthood. ADA2 is highly expressed in immune cells, specially in myeloid lineage and is relevant at maintaining vascular integrity.
Upon sequencing, we realized it was a disease described in medical literature after the patient symptom onset, open up to the possibility to consider other treatment options and explaining a lot of manifestations and complications encountered on the patient as cutaneous, neurologic, hematologic and immunological manifestations.

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