Congenital iodine deficiency syndrome Congenital iodine deficiency syndrome Congenital iodine deficiency syndrome, previously known as cretinism, is a condition of severely stunted physical and mental growth owing to untreated congenital deficiency of thyroid hormone (congenital hypothyroidism) usually owing to maternal hypothyroidism. Around the world, the most common cause of congenital hypothyroidism is iodine deficiency. It has affected many people worldwide and continues to be a major public health problem in many countries. Iodine is an essential trace element, necessary primarily for the synthesis of thyroid hormones. Iodine deficiency is the most common preventable cause of brain damage worldwide. Although iodine is found in many
ZAP70 deficiency ZAP70 deficiency ZAP70 deficiency, or ZAP70 deficient SCID, is a rare autosomal recessive form of severe combined immunodeficiency (SCID) resulting in a lack of CD8+ T cells. People with this disease lack the capability to fight infections, and it is fatal if untreated. It is cause by a mutation in the ZAP70 gene. Children with this condition typically present with infections and skin rashes. Unlike many forms of SCID, absolute lymphocyte count is normal and thymus is present. ZAP70 deficiency SCID is caused by a mutation is the ZAP70 gene, which is involved in the development of T cells. It