Gitlin syndrome
Introduction
Introduction to Gitlin syndrome The disease gene of Gitlinsyndrome is located on the X chromosome, which is a joint recessive genetic severe combined immunodeficiency disease, and the pathogenesis is still inaccurate. Most of the patients are male, susceptible to upper respiratory tract infection, otitis media, pyoderma, mucocutaneous candidiasis and viral infections. The diagnosis depends on genetic investigation and X chromosome examination. The treatment refers to severe combined immunodeficiency disease. Most children die in early childhood, but the proportion of survival is associated with long-term immunodeficiency. basic knowledge Sickness ratio: 0.01%-0.02% Susceptible people: good for infants and young children Mode of transmission: mother-to-child transmission Complications: Pneumocystis carinii cytomegalovirus disease
Cause
Cause of Gitlin syndrome
(1) Causes of the disease
The disease gene of Gitlin syndrome is located on the X chromosome, which is a joint recessive genetic severe combined immunodeficiency disease.
(two) pathogenesis
The pathogenesis is still not clear, and the disease gene is located on the X chromosome.
Prevention
Gitlin syndrome prevention
1. Strengthen care and nutrition to improve patient resistance and immunity.
2. Prevention of infection should pay attention to isolation and minimize contact with pathogens. For severe combined immunodeficiency disease, the child must be placed in a sterile warehouse for a long time until the immune function is reestablished.
3. Avoid vaccination For newborns with suspected immunodeficiency, vaccination against vaccinia, BCG and other live vaccines should be prohibited to avoid systemic vaccinia caused by vaccination against vaccinia. Infection with BCG causes systemic dissemination and death, and measles should be avoided. Polio vaccine.
Complication
Complications of Gitlin syndrome Complications , Pneumocystis carinii, cytomegalovirus, rubella
The disease belongs to lymphopenia, and there may be an unusual reaction of a benign infectious agent or a rare pathogen infection. The occurrence of Pneumocystis carinii, cytomegalovirus, rubella or varicella pneumonia suggests the possibility of immunodeficiency. Any type of pneumonia caused by infection can be fatal.
Symptom
Symptoms of Gitlin syndrome Common symptoms Repeated infections Reduce the ability to fight infection Repeated upper respiratory tract infections Skin and soft tissue infections
Most of the patients are male, susceptible to upper respiratory tract infection, otitis media, pyoderma, mucocutaneous candidiasis and viral infection.
Examine
Gitlin syndrome check
It is generally necessary to check the patient's actual condition.
Diagnosis
Diagnosis and identification of Gitlin syndrome
Diagnosis is based on genetic investigation and X chromosome examination.
This disease is generally not confused with other diseases.
