Autosomal recessive severe congenital neutropenia with early life-threatening infections.
- 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
- Alternative names & eponyms
- Severe congenital neutropenia
Etiology & mechanism
Maturation arrest of myeloid precursors at promyelocyte stage.
Gene(s) involved (9)
Symptoms & signs (7)
In plain terms, someone with Kostmann syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Behçet-like haploinsufficiency of A20 syndrome
fever, oral ulcers
2 shared
Cyclic neutropenia syndrome
gingivitis, oral ulcers
2 shared
Haploinsufficiency of A20 syndrome
fever, oral ulcers
2 shared
Stevens–Johnson syndrome
fever, oral ulcers
1 shared
Acquired immunodeficiency syndrome
fever
1 shared
Acute chest syndrome
fever
1 shared
Antisynthetase syndrome
fever
1 shared
Boerhaave syndrome
fever
1 shared
Castleman syndrome
fever
1 shared
Cryopyrin-associated periodic syndrome
fever
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