Background and Aims

Chronic granulomatous disease ( CGD) is a rare primary immunodeficiency caused by defects in any of the five subnits of the NADPH oxidase complex responsible for the respiratory burst in phagocytic leukocytes.

Methods

We report here the case of a 3 year 6/12 old boy , diagnosed with a myelodysplastic syndrome at the age of 18 months.

He presented several infections such a renal abcess, anal abcess that was not explained by his MDS .An exploration of the immunity was done and a flow cytometric dihydrorhodamine (DHR) neutrophil respiratory burst assay concludes to a CGD.

Results

CGD is a rare PID and the probability to be associated to an other disease is very weak.

The case of this young boy is interesting because he presented first a MDS wich required an hematological disease.

The abscesses were the initial presentation of the CGD in our patient and occur at the age of 36 months

Conclusions

CGD is a rare PID that usually established in life before 5 years old.

The association with an other chronic disease is exceptionnel. A genetic study would have been desirable to see if there is any relationship between CGD and MDS.