What is common variable immunodeficiency (CVID) associated with hypogammaglobulinemia?

Updated: Dec 26, 2018
  • Author: Elizabeth A Secord, MD; Chief Editor: Michael A Kaliner, MD  more...
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Answer

Common variable immunodeficiency (CVID)

  • CVID is present in 1 in 5,000–7,000 people. CVID is so named because it is the most common primary immune deficiency. [3, 4] Variability, implied by the name, relates to the magnitude and classes of deficient serum immunoglobulins and also to the clinical course. CVID is usually differentiated from XLA and autosomal recessive agammaglobulinemia by the presence of B-cells, visible tonsils or a history of tonsillectomy, and palpable or even enlarged lymph nodes.

  • Individuals with CVID typically have recurrent upper and lower respiratory tract infections with encapsulated bacteria such as haemophilus, pneumococcus, staph, and meningococcus as well as and atypical bacterial pathogens such as Mycoplasma pneumoniae, Chlamydia pneumoniae, and Legionella pneumophila. Individuals with CVID also typically have recurrent sinusitis and bronchitis, and they frequently develop bronchiectasis, granulomatous lung disease, and lymphocytic interstitial pneumonitis. Gastrointestinal complications are also typical, including lymphonodular hyperplasia, inflammatory bowel disease, and nonspecific malabsorption. Enteric infections also occur; the most common are Campylobacter jejuni, Helicobacter pylori, and Giardia and hemolytic anemia. [4] One third of patients develop a lymphoproliferative disorder, including splenomegaly, generalized lymphadenopathy, or intestinal lymphoid hyperplasia. These patients are at 30- to 400-fold increased risk for developing non-Hodgkin lymphoma and other malignancies. [4]

  • This diagnosis should not be assigned to patients younger than 2 years, in whom hypogammaglobulinemia may represent a delay in the maturation of B-cell responses.

  • While no pathognomonic physical examination finding is typical, lymphadenopathy, splenomegaly, and/or hepatomegaly can all be present. Abnormal lung examination indicating bronchiectasis suggests long-standing disease. A patient could also have positive Hemoccult test results secondary to invasive bacterial infection.

  • Hallmarks of the disease are hypogammaglobulinemia and impaired specific antibody response to vaccination. Although patients with CVID classically have decreased levels of IgG, IgA, and IgM, some patients may have decreases in levels of only IgG, and some have elevated levels of IgM. Most patients with CVID have a normal number of B cells, but, in approximately one third of patients, the number of B cells with surface immunoglobulin is lower than normal. More detailed description of cellular abnormalities and related testing are described in the Medscape Reference article Pediatric Common Variable Immunodeficiency.

  • About 10 percent of patients have a family history of at least one relative with CVID or selective IgA deficiency, with autosomal dominant or recessive inheritance patterns. The remaining cases are believed to arise from sporadic mutations, although, in most cases, no such mutation has yet been identified. Defects in the molecules ICOS, TACI, and BAFF-R can apparently all result in phenotypes categorized as CVID, but the number of such mutations identified explains only a small percentage of CVID patients, and non-disease-causing polymorphisms are frequent. [9] The mainstays of treatment are regular IgG replacement (IVIG or SCIG) and, when indicated, antimicrobial therapy. However, many CVID patients require corticosteroids to control autoimmune manifestations, and splenectomy is not uncommon


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