# Clinical manifestations of 42 Moroccan patients with chronic granulomatous disease

## TL;DR

This study describes the clinical features and outcomes of 42 Moroccan patients with chronic granulomatous disease, highlighting common infections and the need for early diagnosis.

## Contribution

The study provides a detailed clinical overview of CGD in a Moroccan cohort, emphasizing local disease patterns and mortality factors.

## Key findings

- Skin infections, pneumonia, and Aspergillus-related complications were the most common clinical manifestations.
- Aspergillosis was the primary cause of death among the 17 patients who died.
- BCGitis and inflammatory colitis were frequently observed in this cohort.

## Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency due to alterations in the oxidative metabolism of phagocytic cells. This condition is characterized by serious and recurrent infections caused by pyogenic bacteria, particularly Staphylococcus aureus, and fungal pathogens such as Aspergillus. These infections are associated with granuloma formation and inflammatory manifestations.The aim of our study was to report the clinical characteristics, microbiological aspects and outcomes, and prognosis of a cohort comprising 42 Moroccan patients suffering from CGD.

A total of 42 patients were diagnosed for family history, consanguinity, and both clinical and laboratory findings.The diagnosis was confirmed by assessing neutrophil oxidative burst activity, using either the nitroblue tetrazolium (NBT) test or the dihydrorhodamine (DHR) test.

The cohort comprised children from 34 different families, including 12 siblings. The age of onset ranged from 4 days to 13 years, with the diagnosis being established between the ages of 25 days and 13 years. The predominant clinical manifestations were skin infections, lymphadenopathy, pneumonia, BCGitis, liver abscess, pulmonary aspergillosis, and inflammatory colitis. The most frequently isolated germs were Aspergillus, Serratia, and Staphylococcus. Among the total of 42 patients, 17 fatalities occurred, with aspergillosis being identified as the primary cause of their deaths.

In this study, the clinical characteristics and isolated microorganisms correspond to the pathogens known to be important in CGD. Lung infections represent the most prevalent complication and significantly contribute to high mortality rates, particularly in the case of Aspergillus pneumonia, which is known for its tendency to disseminate. Additionally, BCGitis has been frequently observed in countries where the BCG (Bacille Calmette–Guérin) vaccination is routinely administered. Enterocolitis emerges as the most common inflammatory complication in clinical settings. Unfortunately, CGD remains largely unknown in Morocco, highlighting the urgent need to raise awareness among doctors. This increased awareness could facilitate early diagnosis and improve patient prognosis.