Prevalence: < 1.106. Group of diseases that present as severe neutropenia (polymorphonuclear low level (< 200/mm3), without associated lymphopenia. They can be inherited or sporadic.

At the examination of the bone marrow, there is a blockade of the granulocytic line at the promyelocytic phase.

From a genetic point of view:

-        autosomal dominant transmission of a mutation of the ELANE gene (19q13.3) [MIM 202 700]: severe congenital neutropenia type 1; other mutations of this gene cause cyclic neutropenia

-        autosomal dominant transmission of a mutation of the GFI1 gene (1p22) severe congenital neutropenia type 2 [MIM 613 107]

-        autosomal recessive transmission of a mutation of the HAX1 gene (1q21.3) [MIM 610 738]: severe congenital neutropenia type 3 and Kostmann syndrome [MIM 610 738] or congenital agranulocytosis (see this term)

-        autosomal recessive transmission of a mutation of the G6PC3 gene (17q21) [MIM 612 541]: severe congenital neutropenia type 4 due to a deficiency in ubiquitous glucose-6-phosphatase; Dursun syndrome is part of the phenotype of these mutations (see these terms)

-        autosomal recessive transmission of a mutation of the VPS45 gene (1q21) [MIM 615 285]: severe congenital neutropenia type 5

-        autosomal recessive transmission of a mutation of the JAGN1 gene (3p25) [MIM 616 022]: severe congenital neutropenia type 6

-        autosomal recessive transmission of a mutation of the CSF3R gene (1p34) [MIM 617 014]: severe congenital neutropenia type 7, where the biopsy of bone marrow is normal and for which a GM - CSF treatment is necessary.

-        X-linked transmission of a mutation of the WAS gene (Xp11.4 - p11.21) which causes the Wiskott-Aldrich syndrome (see this term).

The immune deficit causes recurrent bacterial or mycotic infections. Their locations are very variable, most frequently mucocutaneous, ENT and pulmonary. Stomatologic infections, almost constant after two years of age, are marked by erosive bleeding and painful gingivitis associated with papules on the tongue and mucosal surfaces.

Treatment: injections of G-CSF, antibioprophylaxis; bone marrow transplantation.

Risk of leukemia or myelodysplasia in 15 % of cases.

Anesthetic implications:

check blood leucocytes, platelets and red blood cells; strict asepsis and antibioprophylaxis

References :

Updated: June 2019