Common variable immunodeficiency

Common variable immunodeficiency
SpecialtyImmunology Edit this on Wikidata
SymptomsHypogammaglobulinemia, recurrent opportunistic infections, fatigue
ComplicationsAutoimmune manifestations; increased risk of malignancies such as gastric carcinomas, non-Hodgkin lymphoma; lymphocytic infiltration of tissues; nodular regenerative hyperplasia; enteropathy
Usual onsetVaries; median age for symptoms is early 20s for males and mid-20s for females
DurationLifelong
TypesCVID1, CVID2, CVID3, CVID4, CVID5, CVID6
CausesUncertain; at least 30% have an identified heterogeneous gene mutation and/or inheritance of mutations
Diagnostic methodExclusion of other possible causes of hypogammaglobulinemia
Differential diagnosisVaries 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[1]
TreatmentImmunoglobulin replacement therapy, symptom management
PrognosisVaries 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
FrequencyLess than 1 in 30,000

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.[2] Symptoms generally include high susceptibility to pathogens, chronic lung disease, as well as inflammation and infection of the gastrointestinal tract.[2]

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.[3] CVID is a lifelong disease.

  1. ^ Cite error: The named reference update was invoked but never defined (see the help page).
  2. ^ a b "Common Variable Immune Deficiency". Genetics Home Reference. Retrieved February 8, 2016.
  3. ^ Cunningham-Rundles, C. Clinical manifestations, epidemiology, and diagnosis of common variable immunodeficiency in adults. In: UpToDate, Notarangelo, LD, Feldweg, AM (Eds), UpToDate, Waltham, MA, 2020. Retrieved April 8, 2020.