Immunodeficient t-cell primaryD89.9

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 11.03.2022

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DefinitionThis section has been translated automatically.

Group of rare diseases that are the result of genetic disorders of the T-cellular immune system. Because of the central immunoregulatory functions of the T cells, there is always a humoral immune defect, so that functionally, these are combined immune defects. The common feature of these pathogenetically heterogeneous diseases is a pronounced susceptibility to infections (see below: opportunistic infections) as well as a tendency to develop malignancies and autoimmunological complications. Most of these prognostically extremely unfavorable diseases can be cured by bone marrow transplantation.

ClassificationThis section has been translated automatically.

The classification of T-cellular immunodeficiency syndromes is initially based mainly on clinical findings and immunological, disease-specific abnormalities that result from morphological, functional and phenotypic examinations of the lymphatic system, among others. The possibility of defining the underlying defects at the molecular level increasingly allows a classification according to pathogenetic aspects.

T-cellular immunodeficiency syndromes can occur in association with other, very rare, non-immunological diseases. Rarely only are they due to an isolated T-cell defect.

  • Wiskott-Aldrich syndrome: thrombocytopenia, eczema; combined, progressive immunodeficiency
  • Ataxia teleangiectatica (Louis-Bar-Syndrome - G11.3): Progressive cerebellar ataxia, telangiectasia, progressive combined immunodeficiency.
  • Bloom syndrome: dwarfism, skeletal abnormalities, facial erythema, combined immunodeficiency.
  • DiGeorge syndrome: cardiovascular abnormalities, facial dysmorphia, hypoparathyroidism/tetany, thymic hypoplasia; variable T-cell functions.
  • Chronic mucocutaneous candidiasis (B37.2): Heterogeneous group of diseases characterized by persistent candidiasis of the skin and skin-related mucous membranes. Often associated with polyendocrinopathy (e.g. APECED syndrome)
  • hyper- IgE syndrome

Clinical featuresThis section has been translated automatically.

  • The main symptom is the early occurrence of infectious complications, whereby opportunistic pathogens (see below: infections, opportunistic) are characteristic as triggers. The course of the disease is almost always characterized by a progressive deterioration. Particularly frequent are observed:
    • Therapy-resistant fungal infections (especially in the area of the oral mucosa).
    • Chronic intestinal infections with failure to thrive that cannot be influenced.
    • Recurrent infections in the respiratory tract with signs of obstruction and dyspnoea.
    • Acute interstitial pneumonia (often Pneumocystis carinii).
  • The dermatological picture corresponds to an acute graft-versus-host disease with maculo-papular exanthema, diffuse alopecia. At maximum expression, image of toxic epidermal necrolysis (TEN).

LaboratoryThis section has been translated automatically.

T cells are absent or markedly decreased.

Exception: Omenn syndrome (SCID with eosinophilia): Blood count: Mostly lymphopenia, often eosinophilia and thrombocytosis; hypo-dysgammaglobulinemia.

HLA typing: Detection of foreign, e.g. maternal T cells.

Complication(s)This section has been translated automatically.

A graft-versus-host reaction, usually in a significantly attenuated form and predominantly in the area of the skin, can be triggered as a consequence of a materno-fetal transfusion by T cells of maternal origin. There is a risk of a graft-versus-host reaction after blood transfusions with fulminant toxic epidermal necrolysis (TEN), inflammatory reactions in the liver and intestine, and irreversible bone marrow aplasia.

TherapyThis section has been translated automatically.

Implementation of a bone marrow transplant or blood stem cell transplant. Early substitution of immunoglobulins (IgG level in serum should not fall below 5 g/l). Antibiotic infection prophylaxis with Cotrimoxazol (prevention of interstitial pneumonia caused by Pneumocystis carinii). Antimycotic prophylaxis.

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Last updated on: 11.03.2022