Type i polyglandular autoimmune syndrome
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Learn about Type I Polyglandular Autoimmune Syndrome, an incredibly rare autoimmune disorder often characterized by inefficiencies in the adrenal gland.
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- Diagnosis involves detecting very low or absent antibody levels and identifying a mutation in the BTK gene in affected males. Treatment involves lifelong monthly immunoglobulin replacement therapy.
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Hereditary angioedema (HAE) is caused by C1 inhibitor deficiency or dysfunction. There are three main types: HAE type I and II involve C1INH mutations, while HAE type III has normal C1INH levels. Symptoms include non-pruritic swelling of the skin or mucosa. Abdominal or laryngeal attacks can be life-threatening. Diagnosis involves evaluating C1INH antigenic and functional levels. Treatment focuses on preventing attacks or treating acute episodes. Acquired angioedema has similar symptoms but later onset and is sometimes associated with lymphoproliferative disorders.
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Dr. Yassin analyzed a 3-year old girl referred for hypoparathyroidism. Testing found she had a mutation in the AIRE gene, confirming autoimmune polyendocrine syndrome type 1 (APS-1). APS-1 is caused by AIRE gene mutations and results in autoimmunity against multiple endocrine organs. It commonly presents as chronic mucocutaneous candidiasis in childhood, followed by hypoparathyroidism and Addison's disease. Management requires monitoring and treating each individual condition as it arises.
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- It was first described in 1952 and only affects males. Clinical manifestations include recurrent bacterial infections from a young age due to lack of antibodies.
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Hyper-IgE Syndrome is characterized by elevated immunoglobulin E levels and recurrent skin and lung infections. It can be caused by autosomal dominant or recessive mutations. Autosomal dominant Hyper-IgE Syndrome is caused by STAT3 deficiency and is associated with eczema, pneumonia, skeletal abnormalities, and connective tissue problems. Autosomal recessive Hyper-IgE Syndrome is caused by DOCK8 deficiency and has additional neurological symptoms, malignancies, and food allergies compared to the dominant form. Both forms involve immunological defects and require treatment and management of infections.
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Hereditary angioedema
Hereditary angioedema (HAE) is caused by C1 inhibitor deficiency or dysfunction. There are three main types: HAE type I and II involve C1INH mutations, while HAE type III has normal C1INH levels. Symptoms include non-pruritic swelling of the skin or mucosa. Abdominal or laryngeal attacks can be life-threatening. Diagnosis involves evaluating C1INH antigenic and functional levels. Treatment focuses on preventing attacks or treating acute episodes. Acquired angioedema has similar symptoms but later onset and is sometimes associated with lymphoproliferative disorders.
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Hyper IgM Syndrome
Hyper IgM Syndrome, also known as X-linked immunodeficiency with hyper–immunoglobulin M, is caused by mutations in the CD40 ligand gene which is required for immunoglobulin class switching. This leads to elevated IgM levels but reduced IgG, IgA, and IgE. Patients have recurrent infections, pneumonia being most common, and are at risk for autoimmune disorders. Physical exam may reveal oral ulcers, lymphadenopathy, or hepatosplenomegaly related to infection. Differential diagnoses include common variable immunodeficiency, severe combined immunodeficiency, and agammaglobulinemia.
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Common variable immunodeficiency (CVID) is a disorder where patients have low levels of immunoglobulins and antibodies, leading to frequent bacterial infections. It results from defects in B cells that prevent their maturation into plasma cells capable of producing antibodies. CVID is diagnosed through low immunoglobulin levels and treated with immunoglobulin replacement therapy. While the cause is unknown in most cases, it can be inherited and involves defects in B and T cell function and communication.
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Type i polyglandular autoimmune syndrome
- 2. 3 Major Symptoms of PGA-I 1. Mucocutaneous candidiasis Recurring fungal infections. 2. Hyperparathyroidism Tingling sensation in lips and digits. Muscle pain, fatigue, and cramping. 3. Addison Disease of adrenal gland Loss of appetite Low blood pressure Skin color changes Addison’s Disease
- 3. Diagnosis Destruction of endocrine tissues. Symptoms of fungal infections may become chronic. May also develop hypogonadism, alopecia, chronic hepatitis, chronic atrophic gastritis, vitiligo, malabsorption. Mucocutaneous candidiasis Vitiligo
- 4. Causes and Risk Factors Inherited genetically, mutation in the short arm of chromosome 21. Risk Factors Reproducing in your own ethnicity. Females have a higher rate because of an X-linked inheritance factor. Often diagnosed in kids 3-5 or early adolescence.
- 5. Epidemiology* Last mass-recorded occurrence in U.S. in 1999, with 16 patients. Highest record internationally was found in 1 case per 25,000 Finnish. ETHNICITES WITH THE HIGHEST RISK RATE OF DIAGNOSIS Iranian Jews: 1 in 6,500 to 9,000 Sardinians: 1 in 14,000 Finns: 1 in 25,000 Slovenians: 1 in 43,000 Norwegians: 1 in 80,000 to 90,000 Poles: 1 in 129,000 *It’s not contagious or spread, but rather genetically inherited.
- 6. Treatments and Prognosis Treatments Adrenal gland transplants have had success. Vitamin/ mineral hormonal replacement therapy Fluconazole to create mucocutaneous candidiasis. Oral calcium and vitamin D to help hyperparathyroidism. Steroids like prednisone to create hypotension of Addison’s Disease. Prognosis: Varies. Depends on which organs are infected. If caught early and properly monitored, patients can have normal lives (includes possibility of producing healthy children).
- 7. Bibliography Addison's Disease. Digital image. Medical Pictures Info. Medical Pictures Info, 2014. Web. 17 Mar. 2014. Aldasouqi, Saleh A., MD. "Type I Polyglandular Autoimmune Syndrome ."Medscape. Ed. George T. Griffing, MD. WebMD LLC, 4 Feb. 2013. Web. 17 Mar. 2014. Cihakova, Daniela, MD, PhD. "Polyglandular Autoimmune Syndrome Type 1 (PAS-1)."Johns Hopkins Autoimmune Disease Research Center. John Hopkins University School of Medicine, 10 Sept. 2001. Web. 12 Mar. 2014. Detailed Analysis of an Idic(Y)(q11.21) in a Mosaic Karyotype. Digital image.Spandidos Publications. Spandidos Publications, 29 May 2012. Web. 17 Mar. 2014. Genetics Home Reference. "Autoimmune Polyglandular Syndrome, Type 1." Autoimmune Polyglandular Syndrome, Type I. Genetics Home Reference, Aug. 2007. Web. 12 Mar. 2014. Gladerma SA. Mucocutaneous Candidiasis. Digital image. DermQuest. GalDerma, 16 Mar. 2003. Web. 17 Mar. 2014. "Polyglandular Autoimmune Syndrome Type 1." Counsyl. Counsyl, 2014. Web. 17 Mar. 2014. World Vitiligo Day – June 25. Digital image. VITSAF. Vitiligo Support and Awareness Foundation, 2011. Web. 17 Mar. 2014.
- 8. Philosophy of Composition Color Schemes White text against a solid color is easily read by the audience. The PowerPoint theme seemed to have an intriguing visual scheme. The red bar in the right-hand corner is merely a part of the theme, most likely for creating animations and page jumps within the PowerPoint slides. Pictures Desired to adequately show each major symptom and cause, and give an example to resulting symptoms caused by a diagnosis. Pictures representing the symptoms are labeled with text. Transitions I chose to include only fade transitions because I felt other ones would be distracting. Spacing and Position Desired to keep text in line with title, and pictures relatively in center. Text Schemes Desired for each text box to be readable, but within the same size standard for all slides at 20 point for text and 54 for title. However, the BIBLIOGRAPHY page had too much content to keep to standard.