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The Australasian Society of Clinical Immunology and Allergy (ASCIA):Severe combined immune deficiency (SCID) is the most serious form of primary immune deficiency and is usually diagnosed in early infancy. It is a rare disorder, thought to affect fewer than ten Australian children born each year.
SCID is a primary immune deficiency disease
Primary immune deficiencies, such as SCID, are caused by defects in cells of the immune system and are usually inherited. This contrasts with secondary immune deficiency diseases such as acquired immune deficiency syndrome (AIDS), which is caused by infection with human immune deficiency virus (HIV)."
Jill Smith,
Executive Officer
The Australasian Society of Clinical Immunology and Allergy (ASCIA)
PO Box 450 Balgowlah NSW 2093
0425 216 402
Fax: 02 9907 9773
http://www.allergy.org.au/aer/infobulletins/hp_scid.htm
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Severe combined immunodeficiency (SCID), Background, Emedicine.com:"Severe combined immunodeficiency (SCID) is a disorder that results from any of a heterogenous group of genetic conditions affecting the immune system. SCID leads to severe T- and B-cell dysfunction. Without intervention, the severe T- and B-cell dysfunction results in severe infection and death in children by age 2 years.
The most common genetic condition responsible for SCID is a mutation of the common gamma chain of the interleukin (IL) receptors shared by the receptors for IL-2, IL-4, IL-7, IL-9, and IL-15. This protein is encoded on the X chromosome, and this variant of SCID is, therefore, X-linked. These patients account for approximately 50% of all patients with SCIDs.
Autosomal recessive SCID (formerly known as Swiss-type agammaglobulinemia) includes Janus-associated kinase 3 (JAK3) deficiency, adenosine deaminase (ADA) deficiency, purine nucleoside phosphorylase (PNP) deficiency, bare lymphocyte syndrome, IL-2 deficiency, ZAP-70 protein tyrosine kinase (PTK) deficiency, reticular dysgenesis, and Omenn syndrome."
Emedicine.com Main Office
1004 Farnam Street, Suite 300
Omaha, Nebraska 68102
Office: 402-341-3222
Fax: 402-341-3336C
edit@eMedicine.com
http://www.emedicine.com/med/topic2214.htm
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Severe combined immunodeficiency, Definition, healthAtoZ.com:"Severe combined immunodeficiency (SCID) is the most serious human immunodeficiency disorder(s). It is a group of congenital disorders in which both the humoral part of the patient's immune system and the cells involved in immune responses fail to work properly. Children with SCID are vulnerable to recurrent severe infections, retarded growth, and early death.
Description
SCID is thought to affect between one in every 100,000 persons, and one in every 500,000 infants. Several different immune system disorders are currently grouped under SCID."
healthAtoZ.com
Princeton Park Corporate Center
1100 Cornwall Road, Suite 190
Monmouth Junction, NJ 08852
Phone: 732-422-4110
Fax #: 732-422-4112
Info@healthatoz.com
http://www.healthatoz.com/healthatoz/Atoz/ency/severe_combined_immunodeficiency.html
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Kids for SCID:"If you know a baby who isn’t thriving - who has persistent or recurrent respiratory, gastrointestinal or skin problems - an infant who suffers from a chronic cough, multiple ear or sinus infections, rashes, thrush or stubborn diarrhoea - a baby who fails to respond to antibiotics and other medications - then consider SCID as one of the possible causes.
SCID - short for Severe Combined Immune Deficiency - is diagnosed in approximately 30 babies born in the UK each year. But it is thought that many more babies are left undiagnosed or misdiagnosed , and often die before their second birthdays from diseases other children shrug off. Children with SCID are born with defective immune systems or in some cases with no immune system at all. This leaves them dangerously exposed to conditions such as pneumonia, hepatitis and meningitis. Even the common cold can kill. So can the early childhood vaccines given for Polio, Measles, Mumps and Rubella."
Kids for SCID
Hesketh Mount, Ireleth Rd, Ireleth ~ Cumbria ~ LA16 7JD
Tel: 01229 464016 Fax: 020 8846 0955 Email: lesley@kids4scid.org.uk
http://www.homeworking.com/scid/index.htm
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Severe Combined Immune Deficiency ... the latest from the USA, KIDS Foundation of New Zealand Inc.:"Duke Doctors Can Now Cure Most Babies Born With Fatal Immune Disease.
After 16 years of perfecting an experimental treatment, doctors at Duke University Medical Center report they can save most babies born with a rare and fatal immune disorder by giving them a family member’s bone marrow within the first three and a half months of life.
All but one of 22 babies who received a transplant in this time frame survived, according to results of a study published in the Feb. 17 issue of the New England Journal of Medicine.
Without a timely transplant, infants with severe combined immune deficiency (SCID) are destined to die within a year, overcome by infections that attack their bodies because they lack an immune system, said Dr. Rebecca Buckley, chief of Duke’s division of pediatric allergy and immunology."
P. O. Box 75-076,
Manurewa,
Auckland,
New Zealand
National Office (Auckland callers)
Ph (09) 523 5550
National Office (Toll free)
Ph (0508) 300 600
National Office Fax
Fax (09) 523 5551
KIDS Foundation e-mail
janet@pidsnz.co.nz
http://www.pidsnz.co.nz/news/1999/febmar/scid.htm
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Severe Combined Immunodeficiency, kidshealth.org:"In the time following birth, newborns are protected by immunity transmitted to them by their mothers. Within the next few months, though, their immune systems develop and begin to assume responsibility for fighting off infections. But it doesn't take long to determine that a few babies don't have the ability to fight off routine infections on their own.
Severe combined immunodeficiency (SCID) is a rare immune deficiency. There are many other immune deficiencies that may result in recurrent infections, but some children are born with an incomplete, or deficient, immune system. The symptoms of immune deficiency depend on what part of the immune system is affected and can range from mild to life-threatening. SCID is a primary immune deficiency that can be successfully treated if it's identified early. Otherwise, it's often fatal within the first year."
Central Business Office
12735 West Gran Bay Parkway
Jacksonville, FL 32258
866-390-3610 - phone
(toll-free)
http://kidshealth.org/parent/medical/allergies/severe_immunodeficiency_prt.htm
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Severe Combined Immunodeficiency Disease, Merck Manual, Second Home Edition:"Severe combined immunodeficiency disease is a congenital immunodeficiency disorder resulting in low levels of antibodies and a low number and malfunction of T lymphocytes.
Severe combined immunodeficiency disease is the most serious immunodeficiency disorder. It can be caused by several different genetic defects, most of which are hereditary. One form of the disorder is due to a deficiency of the enzyme adenosine deaminase. In the past, children with this disorder were kept in strict isolation, sometimes in a plastic tent, leading to the disorder being called "bubble boy syndrome."
Most infants with severe combined immunodeficiency disease develop pneumonia, thrush, and diarrhea, usually by age 3 months. More serious infections, including pneumocystis pneumonia, can also develop. If not treated, these children usually die before age 2."
Merck & Co., Inc.
One Merck Drive
P.O. Box 100
Whitehouse Station, NJ 08889-0100 USA
Phone: 908-423-1000
Monday-Friday 8:30 AM - 5:30 PM ET
http://www.merck.com/pubs/mmanual_home2/sec16/ch184/ch184i.htm
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Researchers Discover New Cause of Severe Combined Immune Deficiency, National Institute of Arthritis and
Musculoskeletal and Skin Diseases:"Researchers have discovered a new cause of severe combined immune deficiency (SCID) in infants. Children with SCID are born with extensive immune system defects that make them highly susceptible to infections. In the September 7 issue of the journal Nature, investigators from Italy and their colleagues at the National Institutes of Health (NIH) in Bethesda, Md., describe two patients with autosomal recessive SCID who have mutations in the gene encoding a protein called Jak-3. These findings raise the possibility of designing gene therapy for this form of SCID. In the long term these findings might lead to development of a new class of drugs to treat autoimmune diseases such as lupus and rheumatoid arthritis by selectively turning off the immune response."
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Elia Ben-Arii, Office of Scientific and Health Communications
(301) 496-8188
http://www.niams.nih.gov/ne/press/1995/09_06.htm
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Hope Through Research, Severe Combined Immunodeficiency (SCID), by Georgiann Potts:"When high school sweethearts Elton Jefferson Upshaw, Jr., and Martha Jane Burns married in 1961, they shared the hopes and dreams for a happy life that many other couples share. They had promising careers, a new home, and after a time, a new baby. When Elton Jefferson Upshaw III arrived, he was the picture of health. Little did his parents know that an unknown killer had already doomed the infant, and was to change their lives forever. Only through courage and relentless research spanning three generations did Dr. Martha Upshaw and her family finally learn the truth, overcome the pain, and look to the future once again with hope."
Northeast Louisiana University Office of Public Affairs
700 University Avenue/ Monroe, LA 71209
Georgiann Potts either at papotts@alpha.nlu.edu
http://www.scid.net/hope/
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The SCID Homepage:"SCID, Severe Combined Immunodeficiency, is a primary immune deficiency. The defining characteristic is usually a severe defect in both the T- & B-lymphocyte systems. This usually results in the onset of one or more serious infections within the first few months of life. These infections are usually serious, and may even be life threatening, they may include pneumonia, meningitis or bloodstream infections.
"This once-fatal disease should be now seen as a pediatric emergency, a condition that needs immediate diagnosis and treatment. says Dr. Rebecca Buckley, chief of Duke's division of pediatric allergy and immunology. "Early diagnosis of SCID is rare because doctors do not routinely perform a test in newborns to count white blood cells. 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 the child developed an infection. A simple blood test could allow us to treat, and most likely cure, SCID in an infant at a reasonable cost. If found later, less effective treatment can run into the millions." Buckley states, "What we're saying is that essentially every baby with SCID could be cured if diagnosed early enough. SCID should be considered a pediatric emergency."
SCIDemail@scid.net
http://www.scid.net/
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