Primary immunodeficiency disease

Introduction to primary immunodeficiency disease Primary immunodeficiency disease (PID) is a group of diseases in which immune organs, tissues, cells or molecules are defective, leading to immune dysfunction. According to the nature of immunodeficiency, it can be divided into three major categories: humoral immunodeficiency, cellular immunodeficiency and combined immunodeficiency. It is a group of rare diseases, which are related to heredity and often occur in infants and young children. Repeated infections are serious and life-threatening. basic knowledge The proportion of illness: 0.001% Susceptible people: seen in young children Mode of infection: non-infectious Complications: pneumonia meningitis dementia bacterial dysentery viral hepatitis lymphoma

The cause of primary immunodeficiency disease

Genetic factors (60%):

The etiology of primary immunodeficiency disease is not well understood. According to the variety of manifestations of these diseases, it is likely to be caused by a variety of factors, genetic factors play a role in many primary immunodeficiency diseases.

Pathogenesis

Primary immunodeficiency is a cell immunodeficiency disease, mainly thymic dysplasia, insufficient T cell function or defective B cell function due to a small number of T cells. For example, Di George syndrome is caused by thymic dysplasia, hypoparathyroidism and human vascular malformation in the embryonic stage III and IV dysplasia. In clinical immunological tests, the number of TH cells is low and the ability to form antibodies is limited. Nezelof syndrome and nucleoside phosphorylase deficiency are autosomal recessive hereditary diseases, resulting in thymic hypoplasia and defective cellular immune function.

The direct manifestation of humoral immunodeficiency disease is a reduction in the total amount of immunoglobulins, or incomplete types of immunoglobulins, or subtypes of IgG. It can also be reduced in the total amount, but a certain type of immunoglobulin is significantly reduced. Bruton immunoglobulin deficiency is a decrease in immunoglobulin caused by sexual recessive inheritance. Other types of immunoglobulins are reduced, and some can also be found in family history. Among immunoglobulin-deficient patients, some have insufficient B cell function, others are affected by T cell function, or the ratio of TH and TS cells is inverted.

Primary immunodeficiency disease prevention

1. Prevention of primary immunodeficiency is limited to genetic counseling of known genetically identifiable genes. Prenatal diagnosis of cultured amniotic fluid cells or fetal blood can be used for a few immunodeficiencies, such as X-linked gamma-free spheres. Proteinemia, Wiskott-Aldrich syndrome, most severe combined immunodeficiency, with adenosine deaminase deficiency and chronic granulomatous disease, gender testing helps to exclude X-linked defects, in some primary immunodeficiencies Heterozygotes were detected. At the same time, genetic inquiry is required, including personal history, family history, and deformity of both men and women. For cleft palate and cleft lip, the thymus and thymus function can be further examined; skin whitening should be examined for its relationship with Wiskott-Aldrich syndrome.

2, prevention of teratogenic babies immune deficiency: in order to avoid fetal defects caused by immunodeficiency, in addition to the above parental personal history, family history, deformity, etc., but also to avoid mothers during the pregnancy by rubella virus, giant Infection with cell viruses, etc., to prevent the use of drugs with teratogenic tendency to prevent harmful rays such as gamma rays, X-ray irradiation and the like. In the prenatal examination, it is necessary to pay attention to whether the fetus is deformed or not. The deformed child can interrupt the pregnancy.

Primary immunodeficiency complications Complications pneumonia meningitis dementia bacterial sputum disease toxic hepatitis lymphoma

1. Patients with multiple opportunistic infections are easily infected with pathogens that are not sensitive to normal people. One of the characteristics of this disease is the Pneumocystis carinii (50% of patients), and a few are cytomegalovirus, bird type Extensive pneumonia caused by infections such as Mycobacterium and Cryptococcus neoformans, progressive multifocal leukoencephalopathy caused by Toxoplasma gondii and cryptococcal encephalitis and meningitis, and cytomegalovirus, HIV can also directly cause encephalopathy dementia and meninges Inflammation, digestive system infections, common for candida stomatitis and esophagitis, cryptosporidiosis enteritis, but also complicated with bacterial dysentery, typhoid fever, viral hepatitis and disseminated tuberculosis.

2, malignant tumor is commonly Kaposi sarcoma, it is a malignant tumor formed by the abnormal proliferation of vascular endothelial cells and epithelial cells, the lesions mostly start from the skin of the foot, the appearance is purple blue or brown red multiple nodules, then Can be widely involved in other parts, followed by malignant lymphoma.

Symptoms of primary immunodeficiency disease Common symptoms Normal immunoglobulin reduces immunodeficiency ataxia refractory oral ulcer erythematous rash oral ulcer

1. Slow growth or stagnation.

2. There is a lack of tonsils or peripheral superficial lymph nodes after 1 year of age.

3, skin lesions: telangiectasia, bleeding points, skin mold, erythematous lupus-like rash.

4. Ataxia (A-T).

5. Intractable thrush that appears after 1 year of age.

6, chronic stomatitis.

Examination of primary immunodeficiency disease

For all immunodeficiency cases, some laboratory tests must be selected to establish a diagnosis. Before the corresponding treatment, some advanced tests are usually required to further classify the disease. In general, most institutions and hospitals can conduct screening tests. Most large hospitals can conduct advanced tests, and special tests can only be carried out in some laboratories or hospitals equipped with high-level immunology laboratories.

When immunodeficiency is suspected, laboratory screening tests are recommended, including total blood counts and differential counts and platelet counts, determination of IgG, IgM and IgA concentrations, antibody functional assays, clinical and laboratory judgment of infection.

Diagnosis and identification of primary immunodeficiency disease

diagnosis

Diagnosis can be based on medical history, clinical symptoms, and laboratory tests.

Differential diagnosis

Identification of primary and secondary immunodeficiency diseases, secondary immunodeficiency disease is secondary to severe infection, certain physical and chemical factors, nutritional disorders, etc., clinical manifestations are mainly repeated infections, mostly temporary, causative factors After elimination, it can return to normal.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.