Selective immunoglobulin A deficiency: Difference between revisions
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'''Selective immunoglobulin A (IgA) deficiency''' is a relatively mild genetic [[immunodeficiency]]. People with this deficiency lack immunoglobulin A (IgA), a type of antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. It is defined as an undetectable serum IgA level in the presence of normal serum levels of IgG and IgM. It is the most common of the primary antibody deficiencies. | '''Selective immunoglobulin A (IgA) deficiency''' is a relatively mild genetic [[immunodeficiency]]. People with this deficiency lack immunoglobulin A (IgA), a type of antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. It is defined as an undetectable serum IgA level in the presence of normal serum levels of IgG and IgM. It is the most common of the primary antibody deficiencies. | ||
== | ==Historical Perspective== | ||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | |||
==Differentiating {{PAGENAME}} from Other Diseases== | |||
==Epidemiology and Demographics== | |||
Prevalence varies by population, but is on the order of 1 in 500 to 1 in 800 people, making it relatively common for a genetic disease. | Prevalence varies by population, but is on the order of 1 in 500 to 1 in 800 people, making it relatively common for a genetic disease. | ||
== | ==Risk Factors== | ||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
===Natural History=== | |||
===Complications=== | |||
===Prognosis=== | |||
Prognosis is excellent, although there is an association with [[autoimmune disease]]. Of note, selective IgA deficiency can complicate the diagnosis of one such condition, [[celiac disease]], as the deficiency masks the [[celiac disease#Blood tests|high levels of certain IgA antibodies]] usually seen in celiac disease. | |||
== | ==Diagnosis== | ||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
People with selective IgA deficiency are asymptomatic, or have increased frequency of infections such as [[sinusitis]]. These infections are generally mild and would not usually lead to an in-depth workup except when unusually frequent. When suspected, the diagnosis can be confirmed by laboratory measurement of IgA level in the blood. Patients have an increased susceptibility to pneumonia and recurrent episodes of other respiratory infections and a higher risk of developing autoimmune diseases in middle age.<ref>{{cite journal | author=Koskinen S | title=Long-term follow-up of health in blood donors with primary selective IgA deficiency. | journal=J Clin Immunol | volume=16 | issue=3 | pages=165-70 | year=1996 | id=PMID 8734360}}</ref> | People with selective IgA deficiency are asymptomatic, or have increased frequency of infections such as [[sinusitis]]. These infections are generally mild and would not usually lead to an in-depth workup except when unusually frequent. When suspected, the diagnosis can be confirmed by laboratory measurement of IgA level in the blood. Patients have an increased susceptibility to pneumonia and recurrent episodes of other respiratory infections and a higher risk of developing autoimmune diseases in middle age.<ref>{{cite journal | author=Koskinen S | title=Long-term follow-up of health in blood donors with primary selective IgA deficiency. | journal=J Clin Immunol | volume=16 | issue=3 | pages=165-70 | year=1996 | id=PMID 8734360}}</ref> | ||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | ==Treatment== | ||
===Medical Therapy=== | |||
The treatment consists of identification of comorbid conditions, preventive measures to reduce the risk of infection, and prompt and effective treatment of infections. Infections in an IgA-deficient person are treated as usual (i.e., with antibiotics). There is no treatment for the underlying disorder (except for [[bone marrow transplant]], which is far too drastic to be used). In the absence of normal IgA, the body can develop an immune response against IgA itself (anti-IgA antibodies), which can lead to severe reactions including [[anaphylaxis]] to blood transfusions or [[intravenous immunoglobulin]]. Therefore, people known to have this condition must notify their healthcare providers. Since this is a genetic condition, careful discussion should be undertaken prior to having children. | The treatment consists of identification of comorbid conditions, preventive measures to reduce the risk of infection, and prompt and effective treatment of infections. Infections in an IgA-deficient person are treated as usual (i.e., with antibiotics). There is no treatment for the underlying disorder (except for [[bone marrow transplant]], which is far too drastic to be used). In the absence of normal IgA, the body can develop an immune response against IgA itself (anti-IgA antibodies), which can lead to severe reactions including [[anaphylaxis]] to blood transfusions or [[intravenous immunoglobulin]]. Therefore, people known to have this condition must notify their healthcare providers. Since this is a genetic condition, careful discussion should be undertaken prior to having children. | ||
== | ===Surgery=== | ||
===Prevention=== | |||
==Treatment== | |||
==References== | ==References== | ||
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{{Immune disorders}} | {{Immune disorders}} | ||
[[Category: | [[Category:Immunology]] | ||
[[Category:Hematology]] | |||
{{WS}} | |||
{{WH}} | |||
Revision as of 21:07, 23 June 2016
| Selective immunoglobulin A deficiency | |
 | |
|---|---|
| The dimeric IgA molecule. 1 H-chain, 2 L-chain, 3 J-chain, 4 secretory component | |
| ICD-10 | D80.2 |
| ICD-9 | 279.01 |
| OMIM | 137100 |
| DiseasesDB | 29569 |
| MedlinePlus | 001476 |
| eMedicine | med/1159 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Selective immunoglobulin A (IgA) deficiency is a relatively mild genetic immunodeficiency. People with this deficiency lack immunoglobulin A (IgA), a type of antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. It is defined as an undetectable serum IgA level in the presence of normal serum levels of IgG and IgM. It is the most common of the primary antibody deficiencies.
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Selective immunoglobulin A deficiency from Other Diseases
Epidemiology and Demographics
Prevalence varies by population, but is on the order of 1 in 500 to 1 in 800 people, making it relatively common for a genetic disease.
Risk Factors
Screening
Natural History, Complications, and Prognosis
Natural History
Complications
Prognosis
Prognosis is excellent, although there is an association with autoimmune disease. Of note, selective IgA deficiency can complicate the diagnosis of one such condition, celiac disease, as the deficiency masks the high levels of certain IgA antibodies usually seen in celiac disease.
Diagnosis
Diagnostic Criteria
History and Symptoms
People with selective IgA deficiency are asymptomatic, or have increased frequency of infections such as sinusitis. These infections are generally mild and would not usually lead to an in-depth workup except when unusually frequent. When suspected, the diagnosis can be confirmed by laboratory measurement of IgA level in the blood. Patients have an increased susceptibility to pneumonia and recurrent episodes of other respiratory infections and a higher risk of developing autoimmune diseases in middle age.[1]
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
The treatment consists of identification of comorbid conditions, preventive measures to reduce the risk of infection, and prompt and effective treatment of infections. Infections in an IgA-deficient person are treated as usual (i.e., with antibiotics). There is no treatment for the underlying disorder (except for bone marrow transplant, which is far too drastic to be used). In the absence of normal IgA, the body can develop an immune response against IgA itself (anti-IgA antibodies), which can lead to severe reactions including anaphylaxis to blood transfusions or intravenous immunoglobulin. Therefore, people known to have this condition must notify their healthcare providers. Since this is a genetic condition, careful discussion should be undertaken prior to having children.
Surgery
Prevention
Treatment
References
- ↑ Koskinen S (1996). "Long-term follow-up of health in blood donors with primary selective IgA deficiency". J Clin Immunol. 16 (3): 165–70. PMID 8734360.