A female who has a mistake on one of her two X chromosomes also has a normal X chromosome, which compensates for the abnormal one.

Prenatal diagnosis is available for future pregnancies, provided that the faulty gene can be identified. This appears to trigger the development of symptoms, although the number and severity of symptoms is variable.In many cases, XLP1 is an inherited condition, meaning it is passed on in families in the same way that physical characteristics, such as eye colour, are passed from parent to child. Some people affected by XLP1 are more likely to develop infections than normal and may benefit from regular (prophylactic) antibiotics and immunoglobulin replacement. Children often have an unremarkable childhood until primary-school age and exposure to the Epstein-Barr virus.

Bone marrow is the spongy tissue inside bones and contains cells that produce white blood cells, red blood cells and platelets.In affected individuals, the body cannot properly regulate an important type of white blood cell (lymphocytes) in response to a viral infection, usually the Epstein-Barr virus that causes glandular fever. Specialists in genetics and genetic counselling are on hand to talk through the inheritance of XLP1 with you if needed, and PID UK has a separate information leaflet devoted to the genetics of primary immunodeficiency. There are two specialist centres in the UK that treat children with XLP1 – Great Ormond Street Hospital in London, and the Great North Children’s Hospital in Newcastle.

There are many conditions that can cause similar symptoms and it is important that careful evaluation is performed to exclude any of these. Please note this is a generic GOSH information sheet so should not be used for the diagnosis or treatment of any medical condition. white blood cells (leucocytes) a group of small, colourless blood cells that play a major role in the body’s immune system. The outlook for children with XLP1 is improving all the time, owing to better recognition of the condition and improved diagnostic testing so that treatment can be started as quickly as possible. If SAP is found to be absent or in low level, the presence of a gene mutation will also be checked through a blood sample.There are five basic types of white blood cells: monocytes, lymphocytes, neutrophils, eosinophils and basophils. haematopoietic stem cell transplant (HSCT) the transfer of stem cells from a donor – either related or unrelated – to a recipient.