Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia

• Recurrent or prolonged severe infections associated to panleukopenia strongly suggest primary immune disorders.
• Patients with reticular dysgenesis present the first symptoms within the first days of life as manifestations of severe septicemia and invasive infections.
• Myelokathexis in children neutropenia and lymphopenia represents a typical sign of WHIM syndrome.
• Heart defects in patients with panleukopenia must be investigated as it can lead to identification of inherited disorders such as WHIM syndrome, G6PC3 and STK4 deficiency.

Recurrent or prolonged severe infections associated to panleukopenia strongly suggest primary immune disorders. In recent years, new immunodeficiency syndromes turned up: besides the importance of continuous clinical characterization throughout added reports, the phenotype can easily lead to diagnosis of known rare entities. Our purpose is to review main emerging genetic syndromes featuring lymphopenia combined to neutropenia and/or monocytopenia in order to facilitate diagnosis of rare primary immune deficiencies.