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Difference between revisions of "Common variable immunodeficiency"
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Common variable immunodeficiency (view source)
Revision as of 22:14, 24 March 2016
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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== | |||
Duodenum: | |||
*Nodular mucosa - due to lymphoid hyperplasia. | |||
==Microscopic== | ==Microscopic== | ||
Features: | Features - general: | ||
*Plasma cells absent.<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. | |||
*+/-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: | |||
*[[Inflammatory bowel disease]]. | |||
*[[Celiac disease]]. | |||
*[[Graft versus host disease]]. | |||
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> | |||
{| class="wikitable sortable" | |||
!Site | |||
!Features | |||
|- | |||
| 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== | |||
* | *[[Plasma cell]]. | ||
*[[Sarcoidosis]]. | |||
*[[Autoimmune enteropathy]]. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Haematopathology]] | [[Category:Haematopathology]] | ||
[[Category:Diagnosis]] | [[Category:Diagnosis]] | ||