Purpose: To characterize rheumatological manifestations of GATA2 deficiency. Methods: Single-center, retrospective review of 157 patients with GATA2 deficiency. Disease course, laboratory results, and imaging findings were extracted. In-person rheumatological assessments were performed on selected, available patients. A literature search of four databases was conducted to identify additional cases. Results: Rheumatological findings were identified in 28 patients, out of 157 cases reviewed (17.8%). Twenty-two of those patients (78.6%) reported symptom onset prior to or in conjunction with the molecular diagnosis of GATA2 deficiency. Notable rheumatological manifestations included: piezogenic pedal papules (PPP), joint hyperextensibility, early onset osteoarthritis, ankylosing spondylitis, and seronegative erosive rheumatoid arthritis. in peripheral blood of patients with rheumatological manifestations and GATA2 deficiency, CD4+ CD3+ helper T cells and naïve CD3+ CD4+ CD62L+ CD45RA+ helper T cell subpopulation fractions were significantly lower, while CD8+ cytotoxic T cell fractions were significantly higher, compared to those without rheumatological manifestations and with GATA2 deficiency. No changes in CD19, CD3, or NK populations were observed. Conclusion: GATA2 deficiency is associated with a broad spectrum of rheumatological disease manifestations. Low total helper t lymphocyte proportions and low naïve helper t cell proportions are associated with those most at risk of overt rheumatological manifestations. Further, PPP and joint hyperextensibility may explain some of the nonimmunologically-mediated joint problems encountered in patients with GATA2 deficiency. This catalogue suggests that rheumatological manifestations and immune dysregulation are relatively common in GATA2 deficiency. GATA2 is a zinc finger transcription factor that plays a critical role in hematopoietic lineage commitment. Haploinsufficiency of GATA2 underlies five distinct syndromes: (1) Mono-cytopenia and non-tuberculous mycobacterial infection (MonoMAC); (2) Dendritic cell, monocyte, B, and natural killer lymphopenia (DCML); (3) Familial myelodysplasia (MDS)/acute myelogenous leukemia (AML); (4) Emberger syndrome (primary lymphedema with MDS); and (5) classical NK cell deficiency 1-3. The definitive treatment strategy for patients with GATA2 deficiency is nonmyeloablative hematopoietic stem cell transplantation, which has been shown to successfully reconstitute cell population deficiencies and reverse myelodysplastic and infectious phenotypes 4. While the myelodysplastic and infectious disease manifestations in patients with GATA2 deficiency have been well described, only a handful of case reports and case series 5-11 have reported rheumatological manifestations in patients with GATA2 deficiency. Specifically, erythema nodosum 6,7,10,12 , panniculitis 6,7,9,12-14 , primary biliary cirrhosis 6 , hemophagocytic lymphohistiocytosis-like disease 11 , and uncharacterized arthralgias 5,7,14 were previously

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Airbags can be lifesaving during a motor vehicle accident (MVA), but airbag deployment has been the cause of dermatologic injuries including irritant dermatitis, as well as thermal, friction, and chemical burns. A highly corrosive alkaline aerosol composed of sodium hydroxide, sodium bicarbonate, and metallic oxides is released during airbag deployment. We present the case of a 35-year-old man who developed a bullous reaction to released by-products from airbag deployment during an MVA.