Severe combined immunodeficiency disease

Introduction to severe combined immunodeficiency disease Severe combined immunodeficiency disease (SCID), Swiss-type agammaglobulinemia, thymic lymphoid dysplasia, and reticular dysplasia is a severe immunodeficiency disease. It is characterized by congenital and hereditary B-cell T cell system abnormalities, and the disease of this group is autosomal recessive or -linked inheritance. 50% SCID has a positive family history. The SCID associated with dysplasia of the reticular tissue is caused by defects in the original hematopoietic stem cells; Swiss-type agammaglobulinemia is caused by defects in lymphocyte stem cells; part of the SCID is caused by poor differentiation of T cells and maturation disorders of B cells. basic knowledge Sickness ratio: 0.0001% Susceptible people: no special people Mode of infection: non-infectious Complications: erythroderma

Serious combined immunodeficiency disease etiology

Etiology: This group of diseases showed autosomal recessive or -linked inheritance, 50% SCID has a positive family history.

Severe combined immunodeficiency disease prevention

This group of diseases is autosomal recessive or -linked inheritance, and there are no effective preventive measures.

Severe combined immunodeficiency complications Complications

Common complications of SCID: dysplasia of the hair causes short-legged gnomes, and there are damages such as early hair loss, erythroderma and ichthyosis.

Symptoms of severe combined immunodeficiency disease Common symptoms Normal immunoglobulin reduces immunodeficiency Cough fever diarrhea Candida infection Toxemia

More than 3 months after birth, infection with viruses, molds, protozoa and bacteria, and repeated pneumonia, chronic diarrhea, oral and cutaneous Candida infection and middle ear, etc., growth and development of sick children, physical examination generally do not see superficial lymph nodes And tonsils, chest radiography can not see the shadow of the baby thymus, if the child is vaccinated against vaccinia or taking polio vaccine, it will cause fatal vaccinia and polio, in addition, enter the child with immune-active lymphocytes Whole blood, graft-versus-host disease occurs.

The dysplasia of reticular tissue is the most important type of SCID, which is characterized by dual systemic immunodeficiency and severe neutropenia, mostly due to streptococcal sepsis and death within 1 week after birth. SCID may also be associated with bone dysplasia. It leads to short-legged gnomes, and there are damages such as early hair loss, erythroderma and ichthyosis.

SCID with adenosine dehydrogenase (ADA) deficiency is autosomal recessive, clinical manifestations are similar to common SCID, but more bone damage, often involving the costal cartilage junction, spine, pelvis and scapula, ADA is sputum catabolism The catalytic enzyme; ADA deficiency can affect the disease through several mechanisms affecting the disease, detecting the ADA activity of the patient's red blood cells and fetal cells, can confirm the diagnosis and provide a basis for prenatal diagnosis.

Severe combined immunodeficiency test

SCID is a systemic immunodeficiency disease, and both humoral and cellular immune functions are abnormal, but laboratory tests show a variety of changes.

1. IgG, IgA and IgM are very low, but a small number of patients may have 1 to 2 Ig normal, almost no antibody response.

2. In some cases, blood and lymphoid tissue B cells are reduced, while in other cases it may be normal.

3. All cellular immunoassays were abnormal, and the number of peripheral blood T cells was significantly reduced; the memory antigen test and the intradermal hemagglutinin test were extremely poor, and the in vitro T cell function test was also abnormal; the mitogen proliferative response was absent.

Diagnosis and differential diagnosis of severe combined immunodeficiency disease

Diagnosis can be based on medical history, clinical symptoms, and laboratory tests. SCID with adenosine dehydrogenase (ADA) deficiency is autosomal recessive, clinical manifestations are similar to common SCID, but more bone damage, often involving the costal cartilage junction, spine, pelvis and scapula, ADA is sputum catabolism The catalytic enzyme; ADA deficiency can affect the disease through several mechanisms affecting the disease, detecting the ADA activity of the patient's red blood cells and fetal cells, can confirm the diagnosis and provide a basis for prenatal diagnosis.

The disease should be differentiated from other types of immunodeficiency diseases.

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