case_images: PMC5408006_01
case_images: Hemoglobin, platelet, and absolute neutrophil counts for patient during clinical course.
case_images: fped-05-00083-g001.jpg
case_images: PMC5408006_01_fped-05-00083-g001.jpg
case_images: F1
case_images: Follow-up testing 3 days later showed a WBC count of 7.6 K/microL and ANC of 988 K/muL (Figure 1). It was noted that her neutrophil counts were quite variable with nadirs ranging from 500 to 700 K/microL, but did not vary in a cyclical pattern (Figure 1). With the placement of tympanostomy tubes and clindamycin prophylaxis, the frequency of infections decreased, and her ANC trended upwards (Figure 1).
case_images: Toll-like receptor (TLR) testing of patient fibroblasts. SV40 transformed fibroblasts of the patient, and a healthy control were stimulated as indicated and IL6 production measured. PAM2 is a synthetic TLR2 agonist. PAM3 is a synthetic TLR1/2 agonist. A t-test was used to compare each agonist response of the patient versus a control (*<0.05, **<0.01).
case_images: fped-05-00083-g002.jpg
case_images: PMC5408006_01_fped-05-00083-g002.jpg
case_images: F2
case_images: IRAK4 gene (Q293X, 831+5G>T). IL1 stimulation of SV40 immortalized fibroblasts failed to induce normal amounts of IL6, whereas TNF-alpha stimulation was normal confirming loss of function of IRAK4 (Figure 2).