A Case of the Immune System Actin Up: DOCK11 Deficiency
Abstract
A 12-day-old full-term (FT) male presented with one day of diarrhea and respiratory distress. The exam was notable for hypothermia, tachycardia, and hypoxemia. Initial bloodwork showed leukopenia (3,400 cells/uL, absolute neutrophil count [ANC] 710 cells/uL, absolute lymphocyte count [ALC] 1,460 cells/uL), thrombocytopenia (56 cells/uL), C-reactive protein (CRP) >19, procalcitonin 5.2, hyponatremia (126), and hypoalbuminemia (2.0). Chest x-ray revealed bilateral patchy opacities. Broad-spectrum antibiotics were initiated, and an extensive infectious workup was unrevealing. Within 24 hours, he required extracorporeal membrane oxygenation. On day 4, plasmapheresis was initiated. A reticular non-blanching rash developed. Intravenous (IV) methylprednisolone and IV immunoglobulin (IVIG) were started. Quantitative immunoglobulins and complements were normal. Lymphocyte subsets (CD3/4/8/19/56) showed a global reduction in absolute counts. Cytokine testing was notable for: CXCL9: 4,227 (ref:T p.(R1366W), predicted to be deleterious on in silico analysis (Figure 2). Treatment was escalated to anakinra, emapalumab, and etoposide with serologic improvement (Figure 1) and rash resolution. Legionella was identified on blood culture through Matrix-Assisted Laser Desorption/Ionization-Time of Flight (MALDI-TOF) and confirmed with bronchoalveolar lavage (BAL). A second treatment course of levofloxacin was initiated, but unfortunately, his lung disease progressed with diffuse alveolar…
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