Signal Transducer and Activator of Transcription 5 (STAT5B) Deficiency
- Inheritance: Autosomal recessive
- Gene: STAT5B
- Protein: STAT5B
- Test: STAT5B Gene Sequencing
Key Clinical and Laboratory Features
- Common clinical features: Early-onset enteropathy, eczema, and interstitial lung disease. Significant growth delay, dwarfism with normal growth hormone but low IGF-1. Recurrent, severe infections including bacterial sinopulmonary infections, Pneumocystis jirovecii pneumonia, and severe/chronic viral infections (CMV, VZV, HSV, etc.).
- Other clinical features: Facial dysmorphisms (prominent forehead, saddle nose), high-pitched voice.
- Physical exam: Dwarfism, growth abnoramalities. Facial dysmorphism. Abnormalities of pulmonary exam consistent with interstitial lung disease, eczema.
- Common laboratory features: T-cell and NK-cell lymphopenia. Normal serum growth hormone level but low Insulin-like Growth Factor-1 (IGF-1) level. Serum immunoglobulin levels may be decreased.
|GENE||STAT5B Gene Sequencing||The gold standard for confirming a diagnosis of STAT5B deficiency in a patient with suggestive symptoms.|
|PROTEIN AND FUNCTION||N/A||There are currently no available clinical tests to evaluate STAT5B protein expression or function because of a paucity of reagents to reliably differentiate STAT5B from STAT5A.|