Lymphoproliferative disorders associated with primary immune disorders

Introduction to lymphoproliferative diseases associated with primary immune diseases A lymphoproliferative disease associated with a primary immune disease refers to a lymphoproliferative disease (LPD) that occurs on the basis of a primary immunodeficiency or a primary immune-regulatory disorder. basic knowledge The proportion of illness: 0.002% Susceptible people: no special people Mode of infection: non-infectious Complications: lymphoma

Causes of lymphoproliferative diseases associated with primary immune diseases

(1) Causes of the disease

The onset of LPD is associated with intrinsic primary immunodeficiency, and most PID-associated lymphocyte proliferation is associated with EBV infection.

(two) pathogenesis

The main mechanism is that the host has defects in the immune monitoring function of EBV, T cell control function may be completely deficient such as fatal infectious mononucleosis, or partial defects such as lymphomatoid granuloma, high IgM syndrome is due to CD40L Mutations that affect T cell/B cell responses and efficient differentiation of B cells into type-transformed plasma cells.

In APLS, lymphocyte accumulation caused by FAS gene mutation may directly lead to LPD. In ALPS, the severity of apoptosis defects is an important risk factor for lymphoma. In immunodeficient populations, FAS mutations also occur. Lymphoma-related, also supports the view that mutations in the FAS gene are important factors in the development of lymphoma.

At AT, the abnormal DNA repair mechanism secondary to the mutation of ATM gene is an important cause of lymphoma, leukemia and other tumors. In NBS, there are also defects in DNA repair, but lymphoma is more common than other tumors. A striking example of the causal relationship between PID and tumor is that patients with AT or WAS have a significantly reduced susceptibility to malignancy after receiving bone marrow transplantation.

Chronic antigen stimulation may also make some patients prone to lymphoma. In CVID patients, chronic antigen stimulation can lead to extreme hyperplasia of lung and gastrointestinal lymphoid tissue. This benign lymphoid tissue proliferation is prone to lymphoma, but there is no Evidence of direct causality.

In conclusion, PID is a precursor of LPD. In some diseases, there is often a hyperplasia of lymphoid hyperplasia before LPD occurs, such as ALPS and WAS. WAS patients often have serum monoclonal immunoglobulins, and their lymph nodes may contain obvious plasma cells. Hyperplasia, some of which are monoclonal plasma cell proliferation, however, monoclonal amplification, especially for small clones, does not necessarily develop into lymphoma, for example, in CVID, VJ-PCR can detect self-limiting clones Sexual B cell population, high IgM syndrome is characterized by peripheral blood B cells expressing only IgM and IgD, lymph nodes lacking germinal centers, patients often have IgM-producing plasma cells extensively, most commonly in extranodal lesions, such as the gastrointestinal tract, The liver and gallbladder, these lesions can be so extensive that they are already fatal before significant lymphoma manifestations occur.

Prevention of lymphoproliferative diseases associated with primary immune diseases

There is no effective preventive measure for this disease. Early detection and early diagnosis are the key to the prevention and treatment of this disease.

Complications of lymphoproliferative disorders associated with primary immune disease Complications lymphoma

Generally no special complications.

Symptoms of lymphoproliferative disorders associated with primary immune disease Common symptoms Immunodeficiency Unexplained fever Lymphatic hyperplasia

Patients often have fever, weakness and primary disease manifestations at the onset of the disease. The characteristics of clinical manifestations are always affected by the characteristics of the primary immune disease. In rare cases, the occurrence of lymphoma or lymphoproliferative diseases can be internal immunity. The first manifestation of a defective disease, such as an X-linked lymphoproliferative disorder.

Examination of lymphoproliferative diseases associated with primary immune diseases

1. Cell morphology and histopathology PID patients can develop a variety of lymphoma and lymphoproliferative disorders, some of which are like lymphomas in normal immune populations, diffuse B-cell lymphoma (DLBCL) is To date, the most common PID-associated LPD can also occur in Hodgkin's lymphoma (HL) and pleomorphic lymphoproliferative disease similar to PTLD.

2. Cellular immunology The majority of PID patients with LPD are B-cell tumors, so they often express B-cell-specific markers of differentiation. B cells infected with EBV often lead to down-regulation of B-cell antigen expression, so EBV-positive LPD Among them, CD20, CD19 and CD79a can be negative or only expressed in a few tumor cells. Similarly, in most cases, EBV can up-regulate CD30 expression, and LMP-1 can be positive, and can be detected in cells with plasmacytoid differentiation. Monoclonal cIg.

3. Cellular and molecular genetics FIM may be polyclonal at the genetic level, while B-cell lymphoma often has monoclonal IgH rearrangement, because many PIDs often have atypical lymphocyte proliferation, so clonality detection at the gene level It is of great value in judging whether PIDs have progressed to LPD.

According to the condition, clinical manifestations, symptoms, signs, X-ray, B-ultrasound, electrocardiogram, biochemistry, hematuria and routine examinations were selected.

Diagnosis and identification of lymphoproliferative diseases associated with primary immune diseases

Clinical diagnosis and laboratory examination of primary immune disease can be confirmed.

Generally not confused with other diseases.

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