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APDSyndrome.org - promoting best practice, disseminating knowledge, and supporting patients affected by Activated PI3 Kinase Delta Syndrome

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APDSyndrome.org - promoting best practice, disseminating knowledge, and supporting patients affected by Activated PI3 Kinase Delta Syndrome
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9 PI3Kd
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APDSyndrome.org - promoting best practice, disseminating knowledge, and supporting patients affected by Activated PI3 Kinase Delta Syndrome

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1

About

http://www.apdsyndrome.org/index.php/about

Clinical features of APDS. Activated PI3 Kinase Delta Syndrome. Now that the genetic mutation has been discovered for the first time it will be quick, cheap and easy to commence more widespread testing of patients with Primary Immunodeficiency and Hyper-IgM Syndrome. APDSyndrome.Org is a website built for the benefit of patients with APDS, their clinicians, and scientists researching the disease. Our goal is improving the treatment of APDS and ultimately discovering a cure.

2

Diagnosing APDS

http://www.apdsyndrome.org/index.php/for-clinicians/diagnosing-apds

Clinical features of APDS. And IgM memory (IgM. B cells and a dramatic expansion of cells of Transitional phenotype (CD38. With numbers reaching up to 90% of the circulating B cell population. T cell profiling is also distinctive. Whilst absolute T cell counts may be normal, a marked expansion of cells of CD25. APDSyndrome.Org is a website built for the benefit of patients with APDS, their clinicians, and scientists researching the disease.

3

Links

http://www.apdsyndrome.org/index.php/links

Clinical features of APDS. UK Primary Immunodeficiency Network. European Society for Immunodeficiencies. African Society for Immunodeficiencies. UK Primary Immunodeficiency Patient Support. APDSyndrome.Org is a website built for the benefit of patients with APDS, their clinicians, and scientists researching the disease. Our goal is improving the treatment of APDS and ultimately discovering a cure. This site is provided as a free service by the scientists and clinicians who discovered APDS.

4

Clinical genetics hub

http://www.apdsyndrome.org/index.php/for-clinicians/clinical-genetics-hub

Clinical features of APDS. Genetic testing for APDS. APDS is caused by a rare point mutation in the PIK3CD gene. If you think. That your patient has clinical presentation that resembles APDS,. Sequence analysis would be advisable. We can help you to arrange it. If you have a collection of samples from a cohort of patients with. Relevant phenotypes, we could help you to screen these samples for the. Mutation that causes APDS. Sergey Nejentsev MD, PhD. Department of Medicine, University of Cambridge.

5

Trustees

http://www.apdsyndrome.org/index.php/about/trustees

Clinical features of APDS. Trustees of APDSyndrome.org. The content of APDSyndrome.org is written, updated and overseen by a board of clinicians and academics with a specialist interest in this condition:. Wellcome Trust Senior Research Fellow. Professor of Paediatric Immunology. APDSyndrome.Org is a website built for the benefit of patients with APDS, their clinicians, and scientists researching the disease. Our goal is improving the treatment of APDS and ultimately discovering a cure.

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Clinical features of APDS. For patients with APDS. For clinicians caring for patients with APDS. For scientists researching APDS. Welcome to APDSyndrome.Org. This is a site for disseminating knowledge, best practice and clinical information concerning Activated PI3 kinase Delta Syndrome (APDS). We provide information and resources for patients affected by APDS. Involved in their care, and academics and scientists. Working on a better understanding of the disease and new treatment strategies.

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