Common variable immunodeficiency
Common variable immunodeficiency (CVID) is an inborn immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM, and IgA. Symptoms generally include high susceptibility to pathogens, chronic lung disease, as well as inflammation and infection of the gastrointestinal tract.
| Common variable immunodeficiency | |
|---|---|
| Specialty | Immunology |
| Symptoms | Hypogammaglobulinemia, recurrent opportunistic infections, fatigue |
| Complications | Autoimmune manifestations; increased risk of malignancies such as gastric carcinomas, non-Hodgkin lymphoma; lymphocytic infiltration of tissues; nodular regenerative hyperplasia; enteropathy |
| Usual onset | Varies; median age for symptoms is early 20s for males and mid-20s for females |
| Duration | Lifelong |
| Types | CVID1, CVID2, CVID3, CVID4, CVID5, CVID6 |
| Causes | Uncertain; at least 30% have an identified heterogeneous gene mutation and/or inheritance of mutations |
| Diagnostic method | Exclusion of other possible causes of hypogammaglobulinemia |
| Differential diagnosis | Varies by age group Age <4: leaky SCID, transient hypogammaglobulinemia of infancy, XLP, XLA, hyper-IgM syndromes, myelodysplastic syndromes, Wiskott-Aldrich syndrome, rare combined immune deficiencies, cystic fibrosis, HIV Age 5-55: loss of immunoglobulin due to renal/gut disease; side effects of medications (particularly anticonvulsants and anti-rheumatics) Age >56: thymoma, lymphoid malignancies, side effects of medications (particularly anticonvulsants and anti-rheumatics), loss of immunoglobulin due to renal/gut disease |
| Treatment | Immunoglobulin replacement therapy, symptom management |
| Prognosis | Varies by type; recent studies suggest those with only recurrent infections have little or no reduced life expectancy post-diagnosis, while those with disease-related complications have around 50% survival rate 33 years post-diagnosis |
| Frequency | Less than 1 in 30,000 |
CVID affects males and females equally. The condition can be found in children or teens but is generally not diagnosed or recognized until adulthood. The average age of diagnosis is between 20 and 50.
However, symptoms vary greatly between people. "Variable" refers to the heterogeneous clinical manifestations of this disorder, which include recurrent bacterial infections, increased risk for autoimmune disease and lymphoma, as well as gastrointestinal disease. CVID is a lifelong disease.