Such patients were characterized by early-onset CVID associated with autoimmunity, reduction in circulating B-cells, adrenocorticotropic hormone deficiency, hair and/or nail disorders and occasional other pituitary hormone deficiencies.[36, 37] However, we found no abnormal immunological laboratory findings, although we followed the newborn with NFKB2 mutation in our cohort until the age of 3. The gene discussed is NFKB2; the disease is congenital isolated adrenocorticotropic hormone deficiency.