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Start free with EleplanX-linked combined immunodeficiency due to SASH3 deficiency
ORPHA:653751Disease
Also called X-linked CID due to SASH3 deficiency
What it is
A rare non-severe combined immunodeficiency characterized by recurrent sinopulmonary/pulmonary, skin/soft tissue infections, warts and sepsis. Additional clinical features may include meningitis, dental abscesses, septic arthritis, progressive multifocal leukoencephalopathy, episodic bradycardia, bronchiectasis, granulomatous nodules, hypothyroidism, hypophosphatemia, enteropathy, nodular regenerative hyperplasia/hepatomegaly, liver granulomas, granulomatous skin lesions and aphthous ulcers. Infections could be bacterial, viral or fungal. Affected individuals present with refractory autoimmune cytopenias, hemolytic anemia, thrombocytopenia, lymphopenia, and decreased natural killer cells.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Adult, Childhood
- Inheritance
- X-linked 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.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
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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