[MIM 610 738]

(Severe congenital neutropenia type 3)

Prevalence: < 1.106 Autosomal recessive transmission of a mutation of the HAX1 gene (1q21.3). Congenital agranulocytosis. Common bacterial and fungal infections. Oral infections with gingivitis and periodontitis, even if the number of neutrophils is normalized by a treatment stimulating granulocytes (G-CSF) because these neutrophils do not produce an antibacterial peptide (catheline-LL-37).

Increased risk of myelodysplasia or acute myeloid leukemia.

Anesthetic implications:

strict observance of the rules of asepsis. Antibioprophylaxis. Intraoral lesions.

References : 

-        Fenner SG, Cashman JN. 
Anaesthesia and congenital agranulocytosis: influence of anaesthetic agent on neutrophil numbers in a patient with Kostmann's syndrome. 
Br J Anaesth 1991; 66: 620-4.

Updated: June 2019