A child was born with cleft palate. Examination revealed aorta defects and reduced number of T-lymphocytes in blood. What immunodeficient syndrome is it?

Answer options

1. DiGeorge
2. Louis-Bar
3. Swiss-type
4. Wiskott-Aldrich
5. Chediak-Higashi

Explanation

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. It usually affects the 3rd and 4th pharyngeal pouches which give rise to the thymus, parathyroid glands, and portion of the lips, ears, and the aortic arch. It is the most disorder of cell-mediated immunity. The thymus is usually rudimentary and T cells are deficient or absent in the circulation system. Symptoms may often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems, and cleft palate. Associated conditions include kidney problems, hearing loss, and autoimmune disorders such as rheumatoid arthritis or Grave's disease.