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X-linked severe combined immunodeficiency

X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections caused by certain bacteria, viruses, and fungi. These infections can be very serious or life-threatening. The organisms that cause infection in people with X-linked SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. more...

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Many infants with X-linked SCID experience chronic diarrhea and skin rashes, and grow more slowly than other children. Without treatment, affected males usually do not live beyond infancy.

Epidemiology

X-linked SCID is the most common form of severe combined immunodeficiency. The exact incidence is unknown, but the condition probably affects at least 1 in 50,000 to 100,000 births.

Genetics

Mutations in the IL2RG gene cause X-linked severe combined immunodeficiency. The IL2RG gene provides instructions for making a protein that is essential to immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. Lymphocytes defend the body against potentially harmful invaders, make antibodies, and help regulate the entire immune system. Mutations in the IL2RG gene prevent these cells from developing and functioning normally. Without functional lymphocytes, the body is unable to fight off infections.

This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder; this situation occurs only rarely. Therefore, males are affected by X-linked recessive disorders much more frequently than females.

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Continuing education activity sponsored by CDC applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic
From Morbidity and Mortality Weekly Report, 1/16/04

EXPIRATION--January 16, 2007

You must complete and return the response form electronically or by mail by January 16, 2007, to receive continuing education credit. If you answer all of the questions, you will receive an award letter for 1.5 hours Continuing Medical Education (CME) credit; 0.15 Continuing Education Units (CEUs); or 2.0 contact hours Continuing Nursing Education (CNE) credit. If you return the form electronically, you will receive educational credit immediately. If you mail the form, you will receive educational credit in approximately 30 days. No fees are charged for participating in this continuing education activity.

INSTRUCTIONS

By Internet

1. Read this MMWR (Vol. 53, RR-1), which contains the correct answers to the questions beginning on the next page.

2. Go to the MMWR Continuing Education Internet site at <http:// www.cdc.gov/mmwr/cme/conted.html>.

3. Select which exam you want to take and select whether you want to register for CME, CEU, or CNE credit.

4. Fill out and submit the registration form.

5. Select exam questions. To receive continuing education credit, you must answer all of the questions. Questions with more than one correct answer will instruct you to "Indicate all that apply."

6. Submit your answers no later than January 16, 2007.

7. Immediately print your Certificate of Completion for your records.

By Mail or Fax

1. Read this MMWR (Vol. 53, RR-1), which contains the correct answers to the questions beginning on the next page.

2. Complete all registration information on the response form, including your name, mailing address, phone number, and e-mail address, if available.

3. Indicate whether you are registering for CME, CEU, or CNE credit.

4. Select your answers to the questions, and mark the corresponding letters on the response form. To receive continuing education credit, you must answer all of the questions. Questions with more than one correct answer will instruct you to "Indicate all that apply."

5. Sign and date the response form or a photocopy of the form and send no later than January 16, 2007, to Fax: 404-639-4198 Mail: MMWR CE Credit

Office of Scientific and Health Communications

Epidemiology Program Office, MS 008

Centers for Disease Control and Prevention

1600 Clifton Rd, N.E. Atlanta, GA 30333

6. Your Certificate of Completion will be mailed to you within 30 days.

Goal and Objectives

This MMWR provides recommendations regarding public health strategies for primary immunodeficiency (PI) diseases. These recommendations were prepared by CDC staff and other specialists in PI diseases after consultation with a multidisciplinary panel. The goal of this report is to familiarize readers with a public health framework for addressing health problems resulting from a group of primarily single-gene disorders. Upon completion of this continuing education activity, the reader should be able to describe 1) the four components of a public health framework; 2) how public health assessment can be applied to PI and other genetic diseases; 3) the framework for evaluating genetic tests, including analytic validity, clinical validity, clinical utility, and ethical, legal, and social considerations; 4) two public health interventions to increase early diagnosis and treatment for genetic diseases (i.e., newborn screening and early clinical recognition); and 5) the key components of an effective health education program for PI diseases.

To receive continuing education credit, please answer all of the following questions.

COPYRIGHT 2004 U.S. Government Printing Office
COPYRIGHT 2004 Gale Group

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