Kostmann syndrome

Also known as: Severe congenital neutropenia

Autosomal recessive severe congenital neutropenia with early life-threatening infections.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: CSF3R, ELANE, G6PC3, GFI1, HAX1, JAGN1, SRP54, TCIRG1, VPS45

Etiology & mechanism

Maturation arrest of myeloid precursors at promyelocyte stage.

Gene(s) involved (9)

CSF3RELANEG6PC3GFI1HAX1JAGN1SRP54TCIRG1VPS45

Symptoms & signs (7)

fevergingivitisleukemia riskomphalitisoral ulcersrecurrent bacterial infectionssevere neutropenia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.