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Severe combined immunodeficiency (SCID)

This booklet has been produced jointly between PID UK, Great Ormond Street Hospital (GOSH) and the Great North Children’s Hospital. The information has been reviewed by the PID UK Medical Advisory Panel and Patient Representative Panel and by families affected by PID. It is designed to help answer the questions families may have about the immune condition called severe combined immunodeficiency (SCID) but should not replace advice from a clinical immunologist.

Shwachman-Diamond syndrome 

Shwachman-Diamond syndrome (SDS) is a rare condition treated at Great Ormond Street Hospital (GOSH) which affects the pancreas, bone marrow and skeleton. Only 200 or so people have been diagnosed with this condition worldwide. It affects all races and ethnic groups equally and is more common in males than females but more research is needed to understand why.

Skull fracture

A skull fracture is when bone in the skull has been broken by an injury or trauma. As the skull is very strong, it takes a lot of force to damage it. This might be from falling from a height, a car accident or a direct blow to the head.

Small bowel atresia 

The intestines form early in pregnancy as a long straight tube. Before the tenth week of pregnancy, they develop into the separate organs making up the digestive system. Occasionally, the intestines are not completely connected or blocked (atresia). Sometimes there is a partial blockage (web) inside the intestine.

Steroid induced diabetes

Steroids are hormonal chemical messengers that are produced naturally in the body by the adrenal glands (which are just above each kidney) and by the reproductive organs. Man-made versions of these hormonal substances are used to treat a wide range of illnesses and medical conditions. 

Stevens-Johnson syndrome 

Stevens-Johnson syndrome is a rare condition arising from ‘over-reaction’ of the immune system to a trigger such as a mild infection or a medicine, leading to blistering and peeling of the skin and surfaces of the eyes, mouth and throat. It is named after the two doctors who described it in the early 20th century.