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Primary immunodeficiency syndrome due to LAMTOR2 deficiency
Disease definition
Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
ORPHA:90023
Classification level: DisorderSummary
Epidemiology
To date, it has been described in four members of one family.
Etiology
Linkage analysis led to the identification of a homozygous deletion in the coding region of the ROBLD3 gene, resulting in reduced expression of the endosomal adaptor protein p14.
A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)
Detailed information
Disease review articles
- Review article
- English (2011) - Orphanet J Rare Dis


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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