Difference between revisions of "Common variable immunodeficiency"

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==General==
==General==
Features:<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>
*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==
Line 14: Line 22:
*[[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>


===Esophagus===
DDx:
Features - esophagus:<ref name=pmid18043034>{{Cite journal  | last1 = Daniels | first1 = JA. | last2 = Lederman | first2 = HM. | last3 = Maitra | first3 = A. | last4 = Montgomery | first4 = EA. | title = Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. | journal = Am J Surg Pathol | volume = 31 | issue = 12 | pages = 1800-12 | month = Dec | year = 2007 | doi = 10.1097/PAS.0b013e3180cab60c | PMID = 18043034 }}</ref>
*[[Inflammatory bowel disease]].
*Intraepithelial PMNs & candida.
*[[Celiac disease]].
*+/-Abundant intraepithelial lymphocytes.
*[[Graft versus host disease]].
 
===Stomach===
Features - stomach:<ref name=pmid18043034/>
*Lack of [[plasma cell]]s ~ 2/3 of individuals - '''key feature'''
*Lymphoid aggregates - common.
*+/-[[Lymphocytic gastritis]].
*+/-Intraepithelial neutrophils.
*+/-Infections ([[CMV]], [[H. pylori]], [[cryptosporidium]]).
 
===Small bowel===
Features - small bowel:<ref name=pmid18043034/>
*Villous blunting > 80% of individuals.
*Decreased plasma cells ~ 2/3 of individuals - '''key feature'''.
*Lymphoid aggregates ~ 1/2 of individuals.
*+/-Neutrophils + infections (CMV, cryptosporidium).


===Large bowel===
Features by site in the GI tract:<ref name=pmid18043034>{{Cite journal  | last1 = Daniels | first1 = JA. | last2 = Lederman | first2 = HM. | last3 = Maitra | first3 = A. | last4 = Montgomery | first4 = EA. | title = Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. | journal = Am J Surg Pathol | volume = 31 | issue = 12 | pages = 1800-12 | month = Dec | year = 2007 | doi = 10.1097/PAS.0b013e3180cab60c | PMID = 18043034 }}</ref>
Features:<ref name=pmid18043034/>
{| class="wikitable sortable"
*Decreased plasma cells - '''key feature'''.
!Site
*Lymphoid aggregates.
!Features
*+/-Apparent apoptosis.
|-
| Esophagus
| intraepithelial PMNs & candida +/-abundant intraepithelial lymphocytes
|-
| Stomach
| lack of [[plasma cell]]s (~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==
==See also==
*[[Plasma cell]].
*[[Plasma cell]].
*[[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


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. ↑ 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. ↑ 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. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
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