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Severe congenital neutropenia

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Disease definition

A rare primary immunodeficiency, without an associated lymphocyte deficit, characterized by impaired neutrophil maturation and/or function, associated with severe infections, diverse comorbidities, and/or an increased risk of leukemic transformation.

ORPHA:42738

Classification level: Group of disorders

Source: PubMed ID 28593997

Prevalence: <1 / 1 000 000

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive

Age of onset: Childhood

UMLS: C1853118

GARD: 13592

MedDRA: 10052210

A summary on this disease is available in Français, Español, Deutsch, Italiano, Nederlands
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

General public
Article for general public
Svenska (2019) - Socialstyrelsen
Guidelines
Emergency guidelines
Français (2009.pdf) - Orphanet Urgences
Deutsch (2009.pdf) - Orphanet Urgences
Español (2009.pdf) - Orphanet Urgences
Italiano (2012.pdf) - Orphanet Urgences
Clinical practice guidelines
Français (2024) - PNDS Logo FSMR
Français (2022) - PNDS Logo FSMR
Disease review articles
Review article
English (2011) - Orphanet J Rare Dis
Clinical genetics review
English (2018) - GeneReviews
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.