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Disease Profile

Selective IgA deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

IGAD1; Immunoglobulin A, selective deficiency of; IgA, selective deficiency of;

Categories

Immune System Diseases

Summary

Selective IgA deficiency is the most common type of primary immunodeficiency syndrome.[1][2] Individuals with this condition have a complete absence or severe deficiency of IgA, which is essential in the respiratory and gastrointestinal tracts and plays a role in developing mucosal immunity and protection against infection. While many people with selective IgA deficiency appear healthy, they are more prone to infections, allergies, diarrhea, and autoimmune diseases.[2][3][4] The underlying cause of selective IgA deficiency is unknown. Familial occurrence has been reported, with some cases suggestive of autosomal dominant inheritance and others of autosomal recessive inheritance.[1] At this time, there is no way to replace IgA in the body. Antibiotics may be used to treat infections or prevent new infections from occurring.[1][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Decreased circulating IgA level
0002720
Malabsorption
Intestinal malabsorption
0002024
Recurrent infection of the gastrointestinal tract
Recurrent gastrointestinal infections
0004798
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection

[ more ]

0002719
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Sporadic
No previous family history
0003745

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • The National Institute of Allergy and Infectious Diseases (NIAID) provides information on primary immune deficiency diseases. The NIAID supports research to develop better ways to diagnose, treat, and prevent infectious, immunologic, and allergic diseases.
        • The Jeffrey Modell Foundation has an information page on this topic. Click on the link above to view the information page.
        • The Immune Deficiency Foundation has a patient and family handbook on primary immunodeficiency diseases. Click on the link above to view this resource.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Selective IgA deficiency. Click on the link to view a sample search on this topic.

            References

            1. Selective deficiency of IgA. MedlinePlus. May 12, 2014; https://medlineplus.gov/ency/article/001476.htm.
            2. Selective IgA deficiency. Jeffrey Modell Foundation. 2016; https://www.info4pi.org/information-booth/encyclopedia/primary-immunodeficiency-definitions.
            3. Selective IgA Deficiency. American Academy of Allergy Asthma & Immunology (AAAAI). 2016; https://www.aaaai.org/conditions-and-treatments/primary-immunodeficiency-disease/selective-iga-deficiency.
            4. Selective IgA Deficiency. Immune Deficiency Foundation. 2013; https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/selective-iga-deficiency/.