Conditions / Immune
coronin-1A deficiency
info · Immune
A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.
Signs and symptoms
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide
- Recurrent lower respiratory tract infections
- Complete or near-complete absence of specific antibody response to tetanus vaccine
- Gastroesophageal reflux
- Recurrent oral thrush
- Post-vaccination varicella zoster virus infection
- Decreased total lymphocyte count
- Recurrent otitis media
- Recurrent upper respiratory tract infections
- Attention deficit hyperactivity disorder