Common variable immunodeficiency
(Redirected from CVID)
Jump to navigation
Jump to search
Common variable immunodeficiency, abbreviated CVID, is a group of genetic disorders characterized by deficient antibody production.
General
- Recurrent sinus and pulmonary infections.
- Pneumonia seen in ~1/3 of ~2200 patients.[1]
- Splenomegaly seen in ~25% of ~2200 patients.[1]
- Inflammatory bowel disease-like disease.[2]
- Often diagnosed in adulthood ~ mean age 43+/-14 years.[3]
Labs in a series of 8 patients:[3]
- IgG 2.5 +/-0.6 g/L.
- IgA 0.23 +/-0.1 g/L.
- IgM 0.17 +/-0.1 g/L.
Gross
Duodenum:
- Nodular mucosa - due to lymphoid hyperplasia.
Microscopic
Features - general:
- Plasma cells absent (or reduced) - key feature.[2]
- +/-Lymphoid aggregates.
- +/-Granulomatous disease ~8-22%.[4]
DDx:
Features by site in the GI tract:[5]
| Site | Features |
|---|---|
| Esophagus | intraepithelial PMNs & candida +/-abundant intraepithelial lymphocytes |
| Stomach | lack of plasma cells (~2/3 of individuals), lymphoid aggregates (common), +/-lymphocytic gastritis, +/-intraepithelial neutrophils, +/-infections (CMV, H. pylori, cryptosporidium) |
| Small bowel | villous blunting (>80% of individuals), decreased plasma cells (~2/3 of individuals), lymphoid aggregates (~1/2 of individuals), +/-neutrophils + infections (CMV, cryptosporidium) |
| Large bowel | decreased plasma cells, lymphoid aggregates, +/-apparent apoptosis |
See also
References
- ↑ 1.0 1.1 Gathmann, B.; Mahlaoui, N.; Gérard, L.; Oksenhendler, E.; Warnatz, K.; Schulze, I.; Kindle, G.; Kuijpers, TW. et al. (Jul 2014). "Clinical picture and treatment of 2212 patients with common variable immunodeficiency.". J Allergy Clin Immunol 134 (1): 116-26. doi:10.1016/j.jaci.2013.12.1077. PMID 24582312.
- ↑ 2.0 2.1 Agarwal S, Smereka P, Harpaz N, Cunningham-Rundles C, Mayer L (July 2010). "Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease". Inflamm Bowel Dis. doi:10.1002/ibd.21376. PMID 20629103.
- ↑ 3.0 3.1 Dong, J.; Liang, H.; Wen, D.; Wang, J. (Mar 2016). "Adult Common Variable Immunodeficiency.". Am J Med Sci 351 (3): 239-43. doi:10.1016/j.amjms.2015.12.010. PMID 26992251.
- ↑ Ardeniz, O.; Cunningham-Rundles, C. (Nov 2009). "Granulomatous disease in common variable immunodeficiency.". Clin Immunol 133 (2): 198-207. doi:10.1016/j.clim.2009.05.001. PMID 19716342.
- ↑ Daniels, JA.; Lederman, HM.; Maitra, A.; Montgomery, EA. (Dec 2007). "Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review.". Am J Surg Pathol 31 (12): 1800-12. doi:10.1097/PAS.0b013e3180cab60c. PMID 18043034.