Case 16.5
Her colonoscopy reveals ongoing moderate colitis from the rectum to the mid-sigmoid colon. On histology, she is found to have an unusually high number of apoptotic intestinal epithelial cells in the colon. After requesting records from her initial diagnosis 16 years prior, you find that she has a negative neutrophil oxidative index (NOI) and negative evaluation for IL10R deficiency done at diagnosis. Her history is also remarkable for a giardia infection at age 8 and pneumonia requiring inpatient management at age 11, as well as mild splenomegaly (spleen palpable 1-2cm below the left costal margin).
Which of the following aspects of this patient’s history raise suspicion for a possible monogenic disorder and warrant further testing?
Diagnosis at age 6 or younger
High number of apoptotic cells on histology
Frequent and/or severe infections
Splenomegaly