Immunodeficiency with thymoma

Other Names: Thymoma-immunodeficiency syndrome; Good syndrome

Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray.

Cause

While the cause of Good syndrome remains unknown, there is some evidence that a defect of the bone marrow is involved.

Signs and symptoms

Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. carinii pneumonia, and mucocutaneous candidiasis.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Decreased circulating antibody level
• Mediastinal lymphadenopathy(Swollen lymph nodes in center of chest)
• Thymoma

30%-79% of people have these symptoms

• Abnormal leukocyte morphology
• Bronchiectasis(Permanent enlargement of the airways of the lungs)
• Cough(Coughing)
• Dysphagia(Poor swallowing)
• Dysphonia(Inability to produce voice sounds)
• Dyspnea(Trouble breathing)
• Fatigable weakness
• Ptosis(Drooping upper eyelid)
• Recurrent skin infections(Skin infections, recurrent)
• Recurrent urinary tract infections(Frequent urinary tract infections)
• Sinusitis(Sinus inflammation)

5%-29% of people have these symptoms

• Anemia(Low number of red blood cells or hemoglobin)
• Aplasia/Hypoplasia of the thymus(Absent/small thymus)
• Diabetes mellitus
• Diarrhea(Watery stool)
• Recurrent respiratory infections(Frequent respiratory infections)
• Thrombocytopenia(Low platelet count)

Diagnosis

There are no formal diagnostic criteria. Generally it can be defined as an adult-onset primary immunodeficiency associated with thymoma, hypogammaglobulinemia, diminished B and T cells, and inverted CD4/CD8+ ratio. Some consider Good Syndrome to be a subset of common variable immunodeficiency (CVID).

Treatment

Treatment includes removal of the thymic tumor and immunoglobulin replacement. Therapy with IVIG should be given if humoral immunodeficiency is demonstrated, since IVIG can reduce the risk of infections, excess antibiotic administration, hospitalizations, and the development of pulmonary damage.

Prognosis

The long-term outlook (prognosis) for individuals with Good syndrome is believed to be worse than for those with other immunodeficiencies. The outlook is affected more by the severity of associated infections, hematologic complications, and autoimmune diseases, rather than by the behavior of the thymoma. In addition, the course of the condition may be more severe for individuals who require immunosuppressive drugs for associated autoimmune complications.

One single center review of individuals with primary antibody deficiency, spanning 20 years, reported that 70% of individuals with Good syndrome were still living 5 years after the diagnosis. At 10 years, only 33% were still living. Another review of 152 cases found significant overall mortality (46%) associated with the condition.

NIH genetic and rare disease info

• NIH info on Immunodeficiency with thymoma

Immunodeficiency with thymoma is a rare disease.