Cernunnos defect in an Iranian patient with T - B + NK + severe combined immunodeficiency: A case report and review of the literature.

Cernunnos deficiency should be considered as a differential diagnosis in patients with microcephaly, growth retardation, recurrent infections, T-cell defects, and hypogammaglobulinemia. The normal B-cell level in the index patient is an unexpected finding in Cernunnos deficiency which requires further evaluation.