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Laron syndrome with immunodeficiency

Orpha number ORPHA220465
Synonym(s) Laron-like syndrome
Short stature due to STAT5b deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset -
ICD-10
  • D82.8
  • E34.3
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is characterized by severe growth retardation associated with immunodeficiency.

Less than 10 cases have been described in literature.

The patients present typical clinical and biochemical features of Laron syndrome such as post-natal growth retardation, delayed bone age and facial dysmorphism (prominent forehead, hypoplastic nasal bridge), and low serum IGF-1 concentrations with normal or high GH concentrations. Immunodeficiency is characterized by moderate lymphopenia which leads to recurrent infections of the skin and respiratory tract. Severe chronic lung disease, chronic diarrhea, juvenile idiopathic arthritis (see these terms), generalized eczema, pulmonary infections and respiratory distress have already been described.

The syndrome is due to mutation in the signal transducer and activator of transcription 5b gene (STAT5b). Transmission is autosomal recessive. There have been reports of STAT5b mutations resulting in Laron symptoms but not associated with immunodeficiency.

Expert reviewer(s)

  • Pr Juliane LEGER

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