Fifth reflection of the learner.
A potential diagnosis of primary immunodeficiency in an otherwise
healthy 7-year-old boy, without a history of repeated chronic
infections, is not very intuitive. Does the diagnosis of primary
immunodeficiency explain the specific lung involvement in this boy?
Additional information on the 5th podcast.
Fifth case progression: On the 34th day of
hospitalization, genetic results confirmed the suspected diagnosis of
X-linked CGD (mutation of the cytochrome B-245, beta chain gene,CYBB ). The patient’s mother is a healthy carrier of the
pathogenic variant, and his younger brother and father carry healthy
wild-type genotypes. As part of the therapeutic guidelines,
trimethoprim/sulfamethoxazole and voriconazole were continued in
prophylactic doses, while valacyclovir continued as short-term
prophylaxis. In attempt to reverse the interstitial lung process and
prevent pulmonary fibrosis, corticosteroid therapy was reintroduced with
prednisone 5mg/day. The clinical status of the patient improved rapidly,
and the lung function tests performed shortly before discharge 41 days
from admission were also significantly improved (Figure 5a). The patient
remained under close monitoring by pneumologist and was referred to a
tertiary immunology outpatient care. He is currently being prepared for
hematopoietic stem cell transplantation, which represents a curative
option for patients with CGD.