1. NORD - National Organization For Rare Disorders, Inc. Offering discussions, resources, links, and synonyms for many immune deficiencies. http://www.rarediseases.org/

Database Subscriptions Many libraries, schools, universities, and hospitals subscribe to NORD's Rare Disease Database for unlimited access to reports on more than 1,150 diseases. Index of Rare Diseases This is the list of diseases currently covered in the Rare Disease Database. Rare Disease Database Search this database for reports on more than 1,150 diseases. View sample report Index of Organizations This is the list of organizations in NORD's Organizational Database. Organizational Database Read about more than 2,000 patient organizations and other sources of help. NORD's Washington Office Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. U.S. Food and Drug Administration (FDA) List of Orphan Product Designations and Approvals Experiences of the Rare Disorder Community In 1989, a Congressional committee released a report on the ways in which having a rare disease affects patients and their families. Now, NORD and a Sarah Lawrence College graduate student have conducted a similar, but smaller, study to update the findings. Read the full text of the report Save the Dates for NORD Conference The NORD Annual Conference for 2005 will be held Sept. 30 to Oct. 2. On Sept. 29, there will be an optional pre-conference event, a Capitol Hill visit. This year's theme will be

2. Primary Immune Deficiency, NIAID Fact Sheet Primary Immune Deficiency http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. IDF - What Is A Primary Immune Deficiency Disease? Primary immune deficiency diseases are disorders in which part of the body s immune system is There are a wide variety of primary immune deficiencies. http://www.primaryimmune.org/pid/whatis_pid.htm

About Primary Immune Deficiencies What is a Primary Immune Deficiency Disease? Primary immune deficiency diseases are disorders in which part of the body's immune system is missing or does not function properly. In contrast to secondary immune deficiency disease in which the immune system is compromised by factors outside the immune system, such as viruses or chemotherapy, the primary immune deficiency diseases are caused by intrinsic or genetic defects in the immune system. There are a wide variety of primary immune deficiencies. The World Health Organization recognizes nearly 100 primary immune deficiency disease including X-linked Agammaglobulinemia (Bruton's Disease), Common Variable Immune Deficiency, Selective IgA Deficiency, and Severe Combined Immune Deficiency (boy-in-the-bubble disease). Some disorders, such as Selective IgA Deficiency can be quite common, occurring as often as 1/500 to 1/1000 individuals. Others, such as Severe Combined Immune Deficiency, may be as rare as one individual affected per million. Untreated primary immune deficiencies may be characterized by frequent life-threatening infections and debilitating illnesses. Because of advances in our medical understanding and treatment of primary immune deficiency diseases, individuals who in the past would not have survived childhood are now able to live nearly normal lives. Many individuals affected by primary immune deficiency diseases require life long therapies including intravenous gamma globulin infusions, antibiotic therapies, or bone marrow transplantation. The Immune Deficiency Foundation is dedicated to improving the diagnosis and treatment of primary immune deficiency diseases through research and education.

4. Viacell Involved in the development of treatments for cancer, genetic diseases, immune deficiencies and neurological diseases. http://www.viacellinc.com

Dedicated to enabling the widespread application of human cells as medicine in the treatment of human disease. Webcast - Listen Now ViaCell Inc. Second Quarter Earnings Call 8/9/05 at 10:00 AM EST Read the Press Announcement Home Site Map Contact Us 245 First St, Cambridge, MA 02142

5. IMMUNE DEFICIENCY FOUNDATION Media Release Healthcare Crisis Hits Medicare Patients Needing Immune Globulin May 16, 2005. Calendar of Events July 20, 2005 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Immune Deficiencies Since before the advent of antibiotics all immune deficiencies were fatal, mutant genes immune deficiencies are associated with recurrent infections. http://microvet.arizona.edu/Courses/MIC419/Tutorials/deficiencies.html

Tutorials Tutorials ToolBox Abbreviations Glossary ... VSC519 Home Inherited Immune Deficiencies This module will help you understand the immune system better by looking at the impact of immune deficiencies. l earn some of the characterized congenital immune deficiency diseases. t est your knowledge and immunology problem-solving skills. Congenital deficiencies in immune effector mechanisms have contributed greatly to our understanding of the immune system. For example, children born with DiGeorge's syndrome who were found to lack a thymus provided evidence that the thymus was important for immune function decades before its role in T cell development was understood. Many of these deficiencies are summarized in the table below. Some deficiencies lead to increased bacterial or viral infections that can be treated with antibiotics or administration of passive antibodies, while others eliminate adaptive immunity and are fatal within the first year of life. Since before the advent of antibiotics all immune deficiencies were fatal, mutant genes responsible for inherited deficiencies are generally recessive. Production of knock-out mice has allowed us to identify genes controlling other immune functions (see Designer Mice Immune deficiencies are associated with recurrent infections. A battery of tests is available for diagnosing specific immune deficiencies (see

7. Primary Immunodeficiency There are even some inherited immune deficiencies that never produce symptoms. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. IPOPI - International Patient Organisation For Primary What are Primary immune deficiencies? http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Defective Gene Linked To Two Inherited Immune Deficiencies Defects in a single gene can result in two immune system disorders that leave affected individuals vulnerable to frequent or unusually severe infections, http://www.sciencedaily.com/releases/2005/08/050805065004.htm

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Advertise With Us Source NIH/National Institute of Allergy and Infectious Diseases Date Print this page Email to friend Defective Gene Linked To Two Inherited Immune Deficiencies Defects in a single gene can result in two immune system disorders that leave affected individuals vulnerable to frequent or unusually severe infections, according to new findings reported in the August issue of Nature Genetics. The discovery may lead to new diagnostic tests for these two inherited conditionsimmunoglobulin A (IgA) deficiency and common variable immunodeficiency (CVID) Currently, doctors diagnose the conditions by measuring immunoglobulin levels and excluding other causes for lowered immunoglobulin levels; there are no specific tests to detect the two disorders. Related News Stories Gene For Immune Deficiency Syndromes Found (July 12, 2005) A newly discovered gene mutation may account for many cases of immune deficiency, in particular two syndromes known as immunoglobulin A (IgA) deficiency and Common Variable Immunodeficiency (CVID), ... full story Mayo Clinic Researchers Restore Lost Immunity Possible Breakthrough For AIDS (April 20, 2004)

10. Immune Deficiencies immune deficiencies http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. PiA - Primary Immunodeficiency Association - Common Variable British information and support group for primary immunodeficiencies and other disorders of the immune system. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Defective Gene Linked To Two Inherited Immune Deficiencies, August 4, 2005 Press Defective Gene Linked to Two Inherited immune deficiencies. Defects in a single gene can result in two immune system disorders that leave affected http://www.nih.gov/news/pr/aug2005/niaid-04a.htm

National Institute of Allergy and Infectious Diseases (NIAID) FOR IMMEDIATE RELEASE Thursday, August 4, 2005 Subscribe CONTACT: NIAID News Office Defective Gene Linked to Two Inherited Immune Deficiencies Defects in a single gene can result in two immune system disorders that leave affected individuals vulnerable to frequent or unusually severe infections, according to new findings reported in the August issue of Nature Genetics “Most cases of CVID and IgA deficiency are of unknown cause,” notes Josiah Wedgwood, M.D., Ph.D., of the Clinical Immunology Branch of the National Institute of Allergy and Infectious Diseases (NIAID), the component of the National Institutes of Health that funded the study. “To find a specific molecular defect that is the apparent cause of illness in a substantial subset of individuals with these two diseases is extremely important. Not only will this finding enable us to better diagnose these patients, it provides clues to key biochemical pathways that can lead to immunodeficiencies.” The study was led by Raif Geha, M.D., and Emanuela Castigli, Ph.D., of the Children’s Hospital Boston. The Boston team found specific mutations in a gene known as TACI, which plays a specific role in orchestrating the immune response. Defects in TACI were found in 4 of 19 unrelated patients with CVID and in 1 of 16 unrelated patients with IgA deficiency. None of 50 healthy people they studied had a TACI mutation. The scientists believe that it is likely that as yet unidentified genetic defects underlie CVID and IgA deficiency in those cases where TACI was not mutated.

13. Defective Gene Linked To Two Inherited Immune Deficiencies for TACI defects would enable the diagnosis of more children and their relatives with these immune deficiencies ' says Dr. Geha, senior author http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. The Jeffrey Modell Foundation A nonprofit research foundation devoted to primary immune deficiency. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Defective Gene Linked To Two Inherited Immune Deficiencies Defects in a single gene can result in two immune system disorders that leave affected individuals vulnerable to frequent or unusually severe infections, http://www.eurekalert.org/pub_releases/2005-08/nioa-dgl080405.php

Public release date: 4-Aug-2005 E-mail Article Contact: NIAID News Office niaidnews@niaid.nih.gov NIH/National Institute of Allergy and Infectious Diseases Defective gene linked to two inherited immune deficiencies Defects in a single gene can result in two immune system disorders that leave affected individuals vulnerable to frequent or unusually severe infections, according to new findings reported in the August issue of Nature Genetics. The discovery may lead to new diagnostic tests for these two inherited conditionsimmunoglobulin A (IgA) deficiency and common variable immunodeficiency (CVID) Currently, doctors diagnose the conditions by measuring immunoglobulin levels and excluding other causes for lowered immunoglobulin levels; there are no specific tests to detect the two disorders. A deficiency of IgAan important type of infection-fighting antibody found in tears, saliva and other secretionsaffects 1 in 600 people in the western world; CVID is less common but more severe. Both conditions result in a person being more susceptible to pneumonia and to recurring infections of the ear, sinus and gastrointestinal tract. People with CVID also have an increased risk of developing cancers that affect B cells, cells that produce antibodies. Furthermore, IgA deficiency and CVID can predispose to autoimmune diseases, where the immune system turns against the body's own tissues and organs. "Most cases of CVID and IgA deficiency are of unknown cause," notes Josiah Wedgwood, M.D., Ph.D., of the Clinical Immunology Branch of the National Institute of Allergy and Infectious Diseases (NIAID), the component of the National Institutes of Health that funded the study. "To find a specific molecular defect that is the apparent cause of illness in a substantial subset of individuals with these two diseases is extremely important. Not only will this finding enable us to better diagnose these patients, it provides clues to key biochemical pathways that can lead to immunodeficiencies."

16. The SCID Homepage Such a blood test could pick up children with SCID as well as those with other serious immune deficiencies that would not be apparent until http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. NORD - National Organization For Rare Disorders, Inc. Offering discussions, resources, links, and synonyms for many immune deficiencies. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. IPOPI - International Patient Organisation For Primary Immunodeficiencies Primary immune deficiency diseases are inherited disorders in which part of the body s immune There are a wide variety of primary immune deficiencies. http://www.ipopi.org/

IPOPI is an international organization whose members are national patient organizations for the primary immunodeficiencies (PID's). It was formed to benefit and serve its members and patients with primary immunodeficiencies. Its pupose is to unite the experience, expertise, resources and influence of its members in order to achieve worldwide improvement in the care and treatment of patients with PID's. What are Primary Immune Deficiencies? Primary immune deficiency diseases are inherited disorders in which part of the body's immune system is missing or does not function properly. There are a wide variety of primary immune deficiencies. . . (more) Sponsored by Bayer IPOPI Representations to STOA IPOPI recently made representations to STOA to secure a place for primary immunodeficiencies on the European public health agenda. Click to get the text of the Resolution proposed by Professor Nistico and supported by MEPs.

19. Primary Immune Deficiency Disease Publications At The National Institute Of Alle October 3, 2003 NIAID Initiative Addresses Primary Immune Deficiency Diseases; September 27, 2000 - New Project Aims to Identify immune deficiencies Early http://www.niaid.nih.gov/publications/pid.htm

Publications Home Primary Immune Deficiency Diseases Fact Sheets and Brochures Understanding the Immune System News Releases October 3, 2003 NIAID Initiative Addresses Primary Immune Deficiency Diseases September 27, 2000 New Project Aims to Identify Immune Deficiencies Early Among Minority Individuals October 30, 1997 A New Registry for Primary Immune Deficiency Diseases October 28, 1997 Study Advances Development of Gene Therapy for Chronic Granulomatous Disease Other Links When the Body's Defenses are Missing: Primary Immunodefiency NIAID Home About NIAID Activities ... and Infectious Diseases Comments regarding this website are welcome. Please send them to the Webmaster Last Updated December 08, 2003 (alt)

20. Welcome To The Immune Deficiencies Foundation Of New Zealand Web Site Immune Deficiency Foundation of New Zealand home page. http://www.idfnz.org.nz/

Welcome to the Immune Deficiencies Foundation of New Zealand Web Site ! Our Regional And Global Vision To care for children, teenagers, and adults with Primary Immune Deficiencies (PID) by providing financial, emotional, educational, promotional, advocacy, and specialist medical support. Enter var sc_project=309106; var sc_partition=1;

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