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Primary immunodeficiency syndrome due to LAMTOR2 deficiency
Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
ORPHA:90023Classification level: Disorder
- Primary immunodeficiency syndrome due to p14 deficiency
- Primary immunodeficiency syndrome with short stature
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: D82.8
- OMIM: 610798
- UMLS: C1835829
- MeSH: -
- GARD: -
- MedDRA: -
To date, it has been described in four members of one family.
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.
- Review article
- English (2011)