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Neutropenia, lethal congenital, with eosinophilia

MedGen UID:
338037
•Concept ID:
C1850381
•
Disease or Syndrome
Synonym: Neutropenia, Lethal Congenital, with Eosinophilia
 
Monarch Initiative: MONDO:0009754
OMIM®: 257100

Clinical features

From HPO
Eosinophilia
MedGen UID:
41824
•Concept ID:
C0014457
•
Disease or Syndrome
Increased count of eosinophils in the blood.
See: Feature record | Search on this feature
Neutropenia
MedGen UID:
163121
•Concept ID:
C0853697
•
Finding
An abnormally low number of neutrophils in the peripheral blood.
See: Feature record | Search on this feature

Recent clinical studies

Clinical prediction guides

Congenital neutropenia: in vitro growth of colonies mimicking the disease.
L'Esperance P, Brunning R, Good RA
Proc Natl Acad Sci U S A 1973 Mar;70(3):669-72. doi: 10.1073/pnas.70.3.669. PMID: 4514979Free PMC Article

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    • PubMed (OMIM)
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