Reticular dysgenesis- MedGen UID:
- 124417
- •Concept ID:
- C0272167
- •
- Disease or Syndrome
Reticular dysgenesis, the most severe form of inborn severe combined immunodeficiency (SCID), is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth (summary by Pannicke et al., 2009).