T-Cell Deficiency Disorders, Inherited

Cell-mediated immunity is mediated by T-lymphocytes (T-cells) and their effector response and interactions with other immune cells.   Several inherited T-cell disorders have been identified.

T-cell immunodeficiency diseases include:

• Severe combined immunodeficiency (SCID)
• DiGeorge syndrome
• Wiskott-Aldrich syndrome (WAS)
• Ataxia telangiectasia
• Chronic mucocutaneous candidiasis

Epidemiology

• Incidence – all are rare disorders
• Age – onset from neonatal to infancy to adulthood in rare instance
• Gender – equal distribution except for male predominance in  sex-linked SCIDs and sex-linked WAS

Pathophysiology

• In T-cell immunodeficiency diseases, defective lymphocyte responses may occur to stimulants such as:
  • Nonspecific mitogens (PHA, Con A and PWM)
  • Specific antigens, such as Candida or tetanus

Clinical Presentation

• Severe combined immunodeficiency
  • Early onset of severe infections (intracellular bacterial, viral, fungal, pneumocystis)
  • Growth failure
  • Persistent diarrhea
  • Earliest onset in  X-linked SCIDs, adenosine deaminase deficiency (ADA) deficiency, purine nucleoside phosphorylase deficiency (PNP), ZAP-70 defects and others
  • Occurrence of graft-versus-host disease upon exposure to maternal lymphocytes or blood transfusions
• DiGeorge syndrome
  • Congenital heart disease
  • Hypocalcemic tetany
  • Palatal abnormalities
  • Thymic hypoplasia with T-cell deficiency infections (fungal, viral, bacterial, pneumocystis)
• Wiskott-Aldrich syndrome
  • Profound thrombocytopenia with small, nonfunctioning platelets
  • Recurrent infections, viral, pneumococcal
  • Eczema
• Ataxia telangiectasia
  • Progressive cerebellar dysfunction
  • Recurrent infections, sinopulmonary
  • Oculocutaneous telangiectasia

Treatment

• Patients with severe T-cell defects, such as severe combined immunodeficiency, may be appropriate candidates for bone marrow, stem cell transplants or even gene therapy
• Early evaluation and treatment may decrease morbidity and mortality

Bruton Agammaglobulinemia

Chronic Granulomatous Disease - Neutrophil Oxidative Burst

Complement Deficiency - Complement Activity  

Human Immunodeficiency Virus - HIV  

Immunodeficiency, Innate System  

Immunoglobulin Disorders  

Neutrophil Dysfunction

Diagnosis

• Lymphocyte enumerations testing – abnormal
• Laboratory Testing
  • Cell mediated immune screen (LMPS) – rapid test
  • Lymphocyte antigen and mitogen proliferation test measures tritiated thymidine uptake by lymphocytes in response to stimulus (requires 5-7 days)
  • Lymphocyte antigen and mitogen stimulation with cytokines

Differential Diagnosis

• HIV
• Immunoglobulin deficiencies
• Complement deficiencies
• Chronic granulomatous diseases
• Neutrophil Disorders

Indications for Ordering

• Tests generally appear in the order most useful for common clinical situations
• Click on number for test-specific information in the ARUP Laboratory Test Directory

Click the plus sign to expand the table of additional tests.
Test Name and Number	Comments
Lymphocyte Antigen and Mitogen Proliferation Panel with Cytokine Response to Mitogens, Monokines 0051587 Method: Cell Culture/Multi-Analyte Fluorescence Detection
Lymphocyte Antigen and Mitogen Proliferation Panel with Cytokine Response to Mitogens, TH2 Cytokines 0051586 Method: Cell Culture/Multi-Analyte Fluorescence Detection
Lymphocyte Antigen and Mitogen Proliferation Panel with Cytokine Response to Mitogens, TH1 Cytokines 0051585 Method: Cell Culture/Multi-Analyte Fluorescence Detection