Conditions / Immune
immunodeficiency 113
info · Immune
A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phas
A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25.
Signs and symptoms
- Poor wound healing
- Hepatomegaly
- Increased total neutrophil count
- Increased total monocyte count
- Recurrent bacterial infections
- Pulmonary pneumatocele
- Splenomegaly
- Hematochezia
- Scoliosis
- Increased circulating IgA concentration