Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation

A full term, 2-month-old, white girl presented with respiratory distress and hypoxia. Results of chest radiography were consistent with bilateral upper lobe pneumonia; no organism was identified, and a full recovery was achieved after 14 days of antibiotics and supportive therapy. Because of persistent marked leukocytosis (white blood cell count, 51–54.2 × 103/mm3) and thrombocytosis (platelet count, 455–600 × 103/mm3), bone marrow was examined; no indication of malignant transformation was noted.

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