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Start free with EleplanCongenital neutropenia-combined immunodeficiency due to MKL1 deficiency
ORPHA:619941Disease
Also called Congenital neutropenia-CID due to MKL1 deficiency · Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency · MKL1-related neutrophil motility defect
What it is
A rare primary immunodeficieny due to a defect in innate immunity characterized by infantile-onset severe, recurrent bacterial infections. Patients may present with septic shock, meningitis, progressive and severe pneumonia (mostly associated with Pseudomonas infection), malignant otitis media, cutaneous and subcutaneous abscesses and poor wound healing. Severe impairment in neutrophil phagocytosis/migration are reported in all patients. Mild thrombocytopenia can also be present.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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