Skip to navigation menu Skip to content
Informational Alert
Immunologic Disorders

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.

Testing Approach

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.
  • Complete blood count with differential: Lymphopenia may be present.
  • Lymphocyte subset analysis: T-cell and NK-cell lymphopenia.
  • Lymphocyte proliferation to mitogens: Patient T cells often do not proliferate well to mitogens.
  • Quantitative immunoglobulin levels: gG and IgA may be low.
  • Specific antibody titers: Typically low.
  • Chest X-ray, chest CT, and pulmonary function tests: Consistent with interstitial lung disease.

Seattle Children’s complies with applicable federal and other civil rights laws and does not discriminate, exclude people or treat them differently based on race, color, religion (creed), sex, gender identity or expression, sexual orientation, national origin (ancestry), age, disability, or any other status protected by applicable federal, state or local law. Financial assistance for medically necessary services is based on family income and hospital resources and is provided to children under age 21 whose primary residence is in Washington, Alaska, Montana or Idaho.

By clicking “Accept All Cookies,” you agree to the storing of cookies on your device to enhance site navigation, analyze site usage and assist in marketing efforts. For more information, see Website Privacy.

Accept All Cookies