Figure 1.
The diagram is centered around a human figure with various labels and icons indicating different clinical manifestations. The labels are color-coded to denote different clinical phenotypes: red for inflammatory/vasculitic, yellow for hematological, and blue for immunodeficient. The labels include livedo racemosa/reticularis, polyarteritis nodosa-like lesions, Raynaud's phenomenon, stroke, neurocognitive disorders, neuropathies, ocular involvement, recurrent fever, increased CRP and ESR, gastrointestinal manifestations, nephrological involvement, hepatomegaly, splenomegaly, bone marrow failure, lymphocytopenia, neutropenia, pancytopenia, anemia, pure red cell aplasia, lymphoproliferation, low memory B cells, low class switched B cells, low memory CD4 positive T cells, low CD8 positive T cells, low NK cells, and bacterial, viral, and fungal infections. Each label is accompanied by an icon representing the specific manifestation and is positioned around the human figure to indicate the affected areas of the body.
An overview of DADA2 clinical phenotypes including the frequency of the respective phenotypes, as reported by Maccora et al., Lee et al., Dzhus et al., Barron et al., Li et al., Sharma et al., Rama et al., and Pulvirenti et al. (12, 13, 14, 15, 16, 17, 18, 19). Colors denote the major different clinical phenotypes: red indicates the inflammatory/vasculitic phenotype, yellow indicates the hematological phenotype, and blue indicates the immunodeficient phenotype, acknowledging significant phenotypical overlap.