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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: Disorder
  • Synonym(s):
    • 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
  • ICD-11: 4B00.00
  • OMIM: 610798
  • UMLS: C4305256
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

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.

- Last update: March 2007

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Detailed information

Disease review articles

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site 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.