Conditions / Immune
immunodeficiency 55
info · Immune
A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_b
A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21.
Signs and symptoms
- Short stature
- Recurrent infections
- Abnormal facial shape
- Decreased total lymphocyte count
- Intrauterine growth retardation
- Absent natural killer cells
- Decreased total neutrophil count
- Lymphadenopathy
- Postnatal growth retardation
- Eczematoid dermatitis
Also known as: IMD55; combined immunodeficiency due to GINS1 deficiency