Difference between revisions of "Common variable immunodeficiency"
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==General== | ==General== | ||
*Recurrent sinus and pulmonary infections. | *Recurrent sinus and pulmonary infections. | ||
*[[Inflammatory bowel disease]]-like disease. | **Pneumonia seen in ~1/3 of ~2200 patients.<ref name=pmid24582312>{{Cite journal | last1 = Gathmann | first1 = B. | last2 = Mahlaoui | first2 = N. | last3 = Gérard | first3 = L. | last4 = Oksenhendler | first4 = E. | last5 = Warnatz | first5 = K. | last6 = Schulze | first6 = I. | last7 = Kindle | first7 = G. | last8 = Kuijpers | first8 = TW. | last9 = van Beem | first9 = RT. | title = Clinical picture and treatment of 2212 patients with common variable immunodeficiency. | journal = J Allergy Clin Immunol | volume = 134 | issue = 1 | pages = 116-26 | month = Jul | year = 2014 | doi = 10.1016/j.jaci.2013.12.1077 | PMID = 24582312 }}</ref> | ||
*[[Splenomegaly]] seen in ~25% of ~2200 patients.<ref name=pmid24582312/> | |||
*[[Inflammatory bowel disease]]-like disease.<ref name=pmid20629103>{{cite journal |author=Agarwal S, Smereka P, Harpaz N, Cunningham-Rundles C, Mayer L |title=Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease |journal=Inflamm Bowel Dis |volume= |issue= |pages= |year=2010 |month=July |pmid=20629103 |doi=10.1002/ibd.21376 |url=}}</ref> | |||
*Often diagnosed in adulthood ~ mean age 43+/-14 years.<ref name=pmid26992251/> | |||
Labs in a series of 8 patients:<ref name=pmid26992251>{{Cite journal | last1 = Dong | first1 = J. | last2 = Liang | first2 = H. | last3 = Wen | first3 = D. | last4 = Wang | first4 = J. | title = Adult Common Variable Immunodeficiency. | journal = Am J Med Sci | volume = 351 | issue = 3 | pages = 239-43 | month = Mar | year = 2016 | doi = 10.1016/j.amjms.2015.12.010 | PMID = 26992251 }}</ref> | |||
*IgG 2.5 +/-0.6 g/L. | |||
*IgA 0.23 +/-0.1 g/L. | |||
*IgM 0.17 +/-0.1 g/L. | |||
==Gross== | ==Gross== | ||
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*[[Plasma cells]] absent (or reduced) - '''key feature'''.<ref name=pmid20629103>{{cite journal |author=Agarwal S, Smereka P, Harpaz N, Cunningham-Rundles C, Mayer L |title=Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease |journal=Inflamm Bowel Dis |volume= |issue= |pages= |year=2010 |month=July |pmid=20629103 |doi=10.1002/ibd.21376 |url=}}</ref> | *[[Plasma cells]] absent (or reduced) - '''key feature'''.<ref name=pmid20629103>{{cite journal |author=Agarwal S, Smereka P, Harpaz N, Cunningham-Rundles C, Mayer L |title=Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease |journal=Inflamm Bowel Dis |volume= |issue= |pages= |year=2010 |month=July |pmid=20629103 |doi=10.1002/ibd.21376 |url=}}</ref> | ||
*+/-Lymphoid aggregates. | *+/-Lymphoid aggregates. | ||
*+/-Granulomatous disease ~8-22%.<ref name=pmid19716342>{{Cite journal | last1 = Ardeniz | first1 = O. | last2 = Cunningham-Rundles | first2 = C. | title = Granulomatous disease in common variable immunodeficiency. | journal = Clin Immunol | volume = 133 | issue = 2 | pages = 198-207 | month = Nov | year = 2009 | doi = 10.1016/j.clim.2009.05.001 | PMID = 19716342 }}</ref> | |||
DDx: | DDx: | ||
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*[[Plasma cell]]. | *[[Plasma cell]]. | ||
*[[Sarcoidosis]]. | *[[Sarcoidosis]]. | ||
*[[Autoimmune enteropathy]]. | |||
==References== | ==References== | ||
Latest revision as of 22:14, 24 March 2016
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.