leukocyte adhesion deficiency 3

info · Genetic

A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12.

Signs and symptoms

Abnormality of thrombocytes
Recurrent bacterial infections
Hepatosplenomegaly
Splenomegaly
Abnormal bleeding
Hepatomegaly
Recurrent skin infections
Subcutaneous nodule
Pain
Anemia

Also known as: IADD; LAD1 variant; LAD1V; LAD3; integrin activation deficiency disease