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Recurrent Monoarthritis

Depiction of an antibody. Courtesy NIH
Depiction of an antibody. Courtesy NIH

What Is Common Variable Immunodeficiency?

[dropcap]C ommon variable immunodeficiency (CVID) is a primary antibody deficiency disease characterized by the onset of recurrent bacterial infections resulting from markedly decreased immunoglobulin antibody production and antibody levels.

Q: What causes common variable immunodeficiency?

A: Common variable immunodeficiency is caused by a defect in any critical stage of B cell development and is characterized by impaired production of normal amounts of antigen-specific antibodies. This is a set up for infection, autoimmune disease, and cancer.

One important histologic feature is the absence or paucity of plasma cells in the biopsy that occurs in common variable immunodeficiency. The diagnosis is initially made by measuring quantitative immunoglobulins and then specific immune testing on these cell subsets in the circulation by flow cytometry.1

Early diagnosis and treatment with IgG therapy (immunoglobulin G) can decrease illness and mortality.2 

Pulmonary damage is the most frequent complication and may result from recurrent infections and/or immune dysregulation. Other complications due to the underlying immune dysregulation include lymphoproliferative disease (granulomatous disease, lymphadenopathy and hepatosplenomegaly), autoimmune disease, gastrointestinal disease such as chronic inflammation and an increased risk of cancer.3

It is important to recognize that common variable immunodeficiency can occur at any age, but an early onset may be associated with an increased risk of gastric cancers and lymphoma, particularly of the intestine.3

Patients with common variable immunodeficiency should be managed by an immunologist with experience in primary immunodeficiency states, given the complications of these patients.4

What Is Common Variable Immunodeficiency In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Murray JA1, Rubio-Tapia A. Diarrhoea due to small bowel diseases. Best Pract Res Clin Gastroenterol. 2012 Oct;26(5):581-600. doi: 10.1016/j.bpg.2012.11.013. [↩]
  2. Maarschalk-Ellerbroek LJ, Hoepelman AI, van Montfrans JM, Ellerbroek PM. The spectrum of disease manifestations in patients with common variable immunodeficiency disorders and partial antibody deficiency in a university hospital. J Clin Immunol. 2012 Oct;32(5):907-21. doi: 10.1007/s10875-012-9671-6. [↩]
  3. Maarschalk-Ellerbroek LJ, Hoepelman AI, van Montfrans JM, Ellerbroek PM. The spectrum of disease manifestations in patients with common variable immunodeficiency disorders and partial antibody deficiency in a university hospital. J Clin Immunol. 2012 Oct;32(5):907-21. doi: 10.1007/s10875-012-9671-6. [↩] [↩]
  4. Murray JA1, Rubio-Tapia A. Diarrhoea due to small bowel diseases. Best Pract Res Clin Gastroenterol. 2012 Oct;26(5):581-600. doi: 10.1016/j.bpg.2012.11.013. [↩]

Hypocalciuria (Low Urine Calcium)

IgA Molecule.
Depiction of the IgA Molecule

What Is IgA Deficiency?

[dropcap]I gA deficiency (IgAD) is an immunodeficiency disease characterized by lack of immunoglobulin A type antibody production, called IgA antibody, with no detectable levels in blood or secretions.

Q: What is an IgA antibody?

A: IgA is an antibody of the immune system that is secreted by plasma cells (specialized white blood cells) through epithelial cell linings of mucosal surfaces into mucosa secretions to protect the lining from microbe invasion.

In fact, immunoglobulin class A is the main protein of the mucosal immune system. This includes mucosa of the eye surface, digestive tract, respiratory tract, urinary tract, and genital tract.

Both major histocompatibility complex (MHC) and non-MHC genes contribute to susceptibility to the disease. The former genes appear to be located in different parts of the MHC region depending on the HLA haplotype. The latter show a marked overlap with genes associated with a variety of autoimmune disorders including Graves’ disease, systemic lupus erythematosus, type 1 diabetes and celiac disease, suggesting common pathophysiological mechanisms. The involvement of genes associated with autoimmunity may suggest that IgAD in itself is an autoimmune disease.1

IgA deficiency may progress into a common variable immunodeficiency (CVID).2

What Is IgA Deficiency (IgAD) In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Wang N, Hammarström L. IgA deficiency: what is new? Curr Opin Allergy Clin Immunol. 2012 Dec;12(6):602-8. doi: 10.1097/ACI.0b013e3283594219. [↩]
  2. Binek A, Jarosz-Chobot P.Selective immunoglobulin A deficiency. Pediatr Endocrinol Diabetes Metab. 2012;18(2):76-8. [↩]

IgA Nephropathy

X-ray of lungs in sacroidosis showing honeycoming. Courtesy Wikimedia.
X-ray of Lungs in Sacroidosis Showing Honeycoming. Courtesy Wikimedia.

What Is Sarcoidosis?

[dropcap]S arcoidosis is a multisystem granulomatous disease characterized by hard granulomas and inflammation of the alveoli in lungs that occurrs in 80% of patients.

Alveoli are the tiny one cell thick round structures that are clustered at the ends of air passages in the lungs where oxygen from air inhaled is exchanged for carbon dioxide from blood which is breathed out.

Q: What are granulomas?

A: Granulomas are collections of macrophages (white blood cells) that targeted and enclosed but failed to destroy a foreign substance that entered the body.  In turn, the macrophages become encased by other immune cells and fibroblasts and collagen. They can occur in any organ.

Presently, the etiology, or cause, of sarcoidosis is unknown, although it is thought the predisposition is genetic with a local immune mechanism. This disease has flares when active and remissions when symptoms subside.

Referral to a specialist is important for proper treatment and monitoring. The main treatment for severe active sarcoidosis is prednisone, a type of steroid that reduces inflammation in the body. In most people, prednisone relieves symptoms within a couple of months, although most people need to take prednisone for 12 months or longer. Long-term use of prednisone, especially at high doses, can cause serious side effects. Side effects include bone loss, elevated blood sugar, and high blood pressure.

When wheezing and coughing are a problem, inhaler devices are used to deliver medicine into the lungs in order to help open the airways.1

Ibuprofen is prescribed if sarcoidosis is causing joint pain. Steroid creams are prescribed for skin problems.

Sarcoidosis affects 10 to 20 person per 100,000.

What Is Sarcoidosis In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. National Heart, Lung, and Blood Institute [↩]

Kidney Stones (Renal Calculi)

Testing the Eyes for Sjogren's Syndrome.
Testing the Eye for Tear Production (L) and Damage to Conjunctiva from Dryness (R).

What Is Sjögren’s Syndrome?

[dropcap]S jögren’s syndrome is a systemic inflammatory autoimmune disease with a chronic, progressive course that primarily attacks the lacrimal glands of the eye and the salivary glands of the mouth, which are exocrine glands. Exocrine glands secrete the substances they produce through a duct.

Sjögren’s syndrome is ordinarily characterized by dysfunction of the lacrimal glands to produce tears causing dry eye and the salivary glands to produce saliva causing dry mouth, but is not limited by or to these features.

Besides involvement of these exocrine glands, there may be involvement of other parts of the body, termed extraglandular, which may be more severe than eye or mouth features.

There is not yet agreement on classifying Sjögren’s syndrome. Primary and secondary are the two forms generally accepted.1 Both forms can cause mild to severe disease, called the spectrum:

  • Primary Sjögren syndrome. Disease occurs without involvement of other linked autoimmune disorders. In addition to the eyes and mouth, the nose, throat and skin may also be affected and joints, lungs, kidneys, blood vessels, digestive organs and nerves as well.2 Systemic manifestations (other than eyes and mouth) concern a third of patients, including lymphoma in 5% of the patients.3
  • Secondary Sjögren’s syndrome. Disease complicates other autoimmune disease such as systemic lupus erythematosus, rheumatoid arthritis, primary biliary cirrhosis, and celiac disease.

Diagnosis  of Sjögren’s syndrome is made by most doctors based on Schimer’s test for tears and unstimulated whole salivary flow to assess objective eye and oral involvement, since these are the tests most physicians use in clinical practice.4 Specific antibody tests would be  positive for anti-Ro (SSA)/anti-La (SSB) autoantibodies. Sjögren’s syndrome should also be considered when extraglandular manifestations such as vasculitis, polyneuropathy or arthritis occur, even when the patients do not complain of dry eyes and mouth.5

There is no cure for Sjögren’s syndrome. Treatment is aimed to diminish symptoms. For example, steroids and Ibupropen are used to decrease inflammation and pain in joints. Artificial tears and ointments are used for dry eye.

Most people who develop Sjogren’s syndrome are older than 40 years. Nine of ten people with Sjögren’s syndrome are women.2

What Is Sjögren’s Syndrome In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Huang YF, Cheng Q, Jiang CM, An S, Xiao L, Gou YC, Yu WJ, Lei L, Chen QM, Wang Y, Wang J. The immune factors involved in the pathogenesis, diagnosis, and treatment of Sjogren’s syndrome. Clin Dev Immunol. 2013;2013:160491. doi: 10.1155/2013/160491. Epub 2013 Jul 9. [↩]
  2. nlm.nih.gov [↩] [↩]
  3. Fazaa A, Bourcier T, Chatelus E, Sordet C, Theulin A, Sibilia J, Gottenberg JE. Classification criteria and treatment modalities in primary Sjögren’s syndrome. Expert Rev Clin Immunol. 2014 Apr;10(4):543-51. doi: 10.1586/1744666X.2014.897230. [↩]
  4. Cornec D, Saraux A, Cochener B, Pers JO, Jousse-Joulin S, Renaudineau Y, Marhadour T, Devauchelle-Pensec V. Level of agreement between 2002 American-European Consensus Group and 2012 American College of Rheumatology classification criteria for Sjogren’s syndrome and reasons for discrepancies. Arthritis Res Ther. 2014 Mar 19;16(2):R74. [↩]
  5. Witte T. Pathogenesis and diagnosis of Sjögren’s syndrome. Z  Rheumatol. 2010 Feb;69(1):50-6. doi: 10.1007/s00393-009-0519-2. [↩]