Hematologic & Immune Presentations

Presentations of cytopenias, recurrent infections, autoimmunity, or atypical pathogens. Reasoning lines up along lineage (red cell, white cell, platelet, or pan-cytopenia) and pattern of immunity affected (B cell, T cell, phagocyte, complement, innate). Many inherited bone marrow failure syndromes and primary immunodeficiencies share a common surface phenotype with acquired causes (aplastic anemia, drug effect, infection), so the discriminating features (congenital anomalies, family history of cancer or early death, characteristic skin and nail findings, distinctive pathogen patterns) carry most of the diagnostic weight at the bedside. Several entities here are emergencies because of cancer risk, sepsis risk, or treatable but time-sensitive therapy (SCID via TREC screening, Fanconi before transplant, hereditary angioedema episodes); pattern recognition is the difference between a diagnosis caught early and one made on autopsy.