BackgroundGATA2 deficiency presents with a spectrum of phenotypes including increased susceptibility to viral and bacterial infections, multi-lineage cytopenias, aplastic anemia, leukemic transformation and lymphedema. Allogeneic transplantation is only curative therapy for GATA2 deficiency, but is associated with significant treatment related morbidity and mortality. Given the spectrum of clinical presentation, accurate diagnosis of GATA2 deficiency is necessary to identify patients early in their disease course when allogeneic bone marrow transplantation may be of clinical benefit.Case presentationIn this report, we present a GATA2 mutation diagnosed in 23-year-old woman presenting with pancytopenia, recurring oral blisters, fatigue and chronic pain. We describe markedly low levels of mature B-cells in the blood and bone marrow and the absence of detectable blood dendritic cells with normal serum immunoglobulin levels and normal numbers of marrow plasma cells. She was ultimately diagnosed with GATA2 haplo-insufficiency due to a GATA2 germ-line mutation and underwent a successful allogeneic bone marrow transplant from a 10/10 HLA matched unrelated donor.ConclusionsThe case illustrates the diagnostic difficulties in identifying GATA2 deficiencies and the importance of family history and genetic testing. GATA2 plays an important role in B-cell and dendritic cell development, and decreased numbers of those cells is a characteristic feature that should prompt consideration of GATA2 deficiency in a patient with pancytopenia. Maturation of B-cells to long-lived plasma cells is relatively unaffected in GATA2 deficiency. Allogeneic stem cell transplantation can correct immune-deficiencies and prevent leukemic transformation in patients with GATA2 deficiency.

INTRODUCTION: Hidradenitis Suppurativa (HS) is a chronic inflammatory skin disease characterized by painful swollen lesions involving intertriginous regions. Complications of HS include lymphedema, squamous cell carcinoma, strictures, sacral osteomyelitis, and lumbosacral abscess. We present a case of a 38-year-old female with history of HS without any other comorbidities such as DM, ESRD, IV drug use, or recent surgical intervention (Reference 1), who developed life-threatening panspinal epidural abscess (pan-SEA) leading to acute paralysis. CASE PRESENTATION:A 38-year-old female with history of HS presented to the hospital with fevers, weakness, and lower abdominal pain radiating to her lower back for 2 days. Vital signs included blood pressure 125/73, heart rate 157, respiratory rate 20, temperature 39.4 C, and oxygen saturation 98% on room air. Initial exam revealed ill-appearing woman with an open sacral wound on top of the anal cleft. Pertinent labs included leukocytosis (30.1), lactic acid (5.3), CRP (>240), LDH (196), D-Dimer (6818), pro-calcitonin (87.14), and electrolyte imbalances (K 3.3, Mg 1.1, Phos < 1.0). Initial imaging included unremarkable CT Head without contrast, and CT abdomen/pelvis with contrast that indicated enhancing skin thickening along the right perineum. Despite aggressive fluid resuscitation and broad-spectrum antibiotics, patient developed worsening hypotension in setting of persistent tachycardia to 140s. Given concern for septic shock, she was transferred to intensive care unit. Subsequent exam was significant for sacral ulcer draining copious purulent discharge, decreasing strength in all 4 extremities, and neck pain upon flexion. She developed worsening oxygen requirements with rapidly progressing paralysis and suspected involvement of respiratory muscles, prompting intubation for airway protection. MRI CTL Spine demonstrated pan-SEA, with severe spinal cord compression from C2-C7, and to a lesser degree in thoracic spine. Patient underwent emergent neurosurgical decompression with C2-C7 posterior laminectomy, along with evacuation of epidural abscess.DISCUSSION: This case highlights HS in the life-threatening setting of pan-SEA leading to acute paralysis. While HS has been known to cause sacral abscesses that often require surgical incision and drainage, literature review did not yield any cases showing pan-SEA that required urgent neurosurgical intervention due to acute paralysis. The rapidly deteriorating neurological changes over a short time span (reference 2) with purulent discharge from the sacral ulcers from HS, in conjunction with the labs consistent with severe sepsis, led to an expedited MRI CTL Spine and improved outcome in our patient. CONCLUSIONS:We believe this case will help with rapid identification of pan-SEA in patients with HS, and emphasize the importance of urgent multidisciplinary approach to treatment.