ABCA3

ABCA3 deficiency is caused by inherited mutations in the ABCA3 gene (ABCA3) on chromosome 16. Individuals with ABCA3 deficiency may present at birth, similar to SP-B deficiency, or in older children in whom course of the disease may be milder and more chronic with cough and failure to thrive. It is an autosomal recessive condition, meaning that a child must inherit two copies of an abnormal gene (one from each parent) in order to show symptoms. The prognosis is variable, depending on the severity of the disease. Some children require lung transplantation while others do not.