Introduction.
Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI), specifically phagocytosis. Patients do not produce reactive oxygen species secondary to a failure of one of the components of the enzyme NADPH oxidase. The X-linked forms are associated with severe manifestations and require curative treatments such as timely stem cell transplantation (SCT). We present the case of a male patient with severe manifestations after two months old.

Case presentation.
A 2-years-old male started at two months of age with various clinical manifestations such as pneumonia and Candida sepsis. He was referred to our institution with a previous clinical background because of a new infectious event: multiple cervical lymphadenitis, we suspected that there was a problem in the patient’s immune system, we ruled out HIV; in addition, we evaluated the size of the thymus, lymphocyte populations, and serum immunoglobulins, all were normal. We confirmed that the patient had X-linked CGD by measuring radical oxygen species production by dihydrorhodamine. The genetic study confirmed a pathogenic variant in the CYBB c.388C>T gene (p.Arg130*). After analyzing the severe evolution, we decided to send the patient to a specialty hospital for SCT. Currently, the patient has been transplanted.

Discussion.
We present the first CGD case diagnosed in our hospital. IEI should be suspected in those patients with severe infections and inflammatory manifestations. The patient described here presented several features suggestive of a severe phenotype such as multiple infectious manifestations before the first year of life, X-linked inheritance, and a premature stop codon pathogenic variant. In these cases, SCT is indicated as soon as possible to avoid organ damage, in addition this procedure has greater engraftment at a younger age. Finally, SCT must be consider in CGD patients with a severe phenotype.