[CIS PIDD] CGD case

[Maria Gutierrez]

I have a 9.4 years Hispanic boy recently diagnosed with CGD and I have 3
questions for the forum:
1. Would you start this patient on Interferon?
2. What is the usual TMP-SMX that you use for prophylaxis in CGD patients?
3. He has a 12 y.o. sister. What would be the most cost-effective strategy
for evaluation of carrier status/genetic counseling for her?
 Here is a brief summary of the case:
9.4 y/o boy who was admitted to our hospital last spring for evaluation of
recurrent pneumonia. This time, he had a right-sided pneumonia that
persisted despite in-patient intravenous antibiotics for several days.
Bronchoalveolar lavage (BAL) was performed revealed a positive Aspergillus
antigen (Galactomannan) and >100,000 colonies/ml of *S. Viridans*. The
patient had a history of 5-6 episodes of severe, slow to improve
pneumonias, since the age of 3 years. He had no history of other recurrent
or atypical infections. He was an otherwise normal child and had prolonged
periods of time (2-3 years) when he was asymptomatic between the episodes
of recurrent pneumonia. There is no known cases of other family members
with immunodeficiency.
During this admission, his previous chest images from past episodes of
pneumonia were reviewed. They revealed different patterns  that ranged from
extensive, diffuse nodularity to large, focal opacifications in different
segments of the lungs at different times. His clinical and radiographic
findings raised the concern for a possible  immunodeficiency.
Dihydrorhodamine-123 (DHR) test revealed an abnormal neutrophil oxidative
burst. However, his histogram resembled the pattern seen in autosomal
recessive cases (broad-based shift in fluorescence, partially shifted to
the right) suggesting partial preservation of oxidase activity. The patient
completed  a 4-week course of cefepime, vancomycin and voriconazole with
improvement. Confirmatory genetic sequencing revealed a hemizygous c.252
G>A mutation in the CYBB gene. Currently, he received
trimethoprim/sulfamethoxazole
(TMP-SMX) and itraconazole for long-term prophylaxis and he has not had new
episodes of pneumonia.
I will greatly appreciate you input on the case.
Thanks in advance.

Maria J. Gutierrez, M.D
Fellow, Allergy, Immunology and Pediatric Rheumatology
Penn State Hershey Children's Hospital
500 University Drive
Hershey, PA 17033
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