Find information on thousands of medical conditions and prescription drugs.

Severe combined immunodeficiency

Severe Combined Immunodeficiency, or SCID, is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and must live (if untreated) in a completely sterile environment. The most famous case is the boy David Vetter. more...

Home
Diseases
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
Sabinas brittle hair...
Saccharopinuria
Sacral agenesis
Saethre-Chotzen syndrome
Salla disease
Salmonellosis
Sandhoff disease
Sanfilippo syndrome
Sarcoidosis
Say Meyer syndrome
Scabies
Scabiophobia
Scarlet fever
Schamberg disease...
Schistosomiasis
Schizencephaly
Schizophrenia
Schmitt Gillenwater Kelly...
Sciatica
Scimitar syndrome
Sciophobia
Scleroderma
Scrapie
Scurvy
Selachophobia
Selective mutism
Seminoma
Sensorineural hearing loss
Seplophobia
Sepsis
Septo-optic dysplasia
Serum sickness
Severe acute respiratory...
Severe combined...
Sezary syndrome
Sheehan syndrome
Shigellosis
Shingles
Shock
Short bowel syndrome
Short QT syndrome
Shprintzen syndrome
Shulman-Upshaw syndrome
Shwachman syndrome
Shwachman-Diamond syndrome
Shy-Drager syndrome
Sialidosis
Sickle-cell disease
Sickle-cell disease
Sickle-cell disease
Siderosis
Silicosis
Silver-Russell dwarfism
Sipple syndrome
Sirenomelia
Sjogren's syndrome
Sly syndrome
Smallpox
Smith-Magenis Syndrome
Sociophobia
Soft tissue sarcoma
Somniphobia
Sotos syndrome
Spasmodic dysphonia
Spasmodic torticollis
Spherocytosis
Sphingolipidosis
Spinal cord injury
Spinal muscular atrophy
Spinal shock
Spinal stenosis
Spinocerebellar ataxia
Splenic-flexure syndrome
Splenomegaly
Spondylitis
Spondyloepiphyseal...
Spondylometaphyseal...
Sporotrichosis
Squamous cell carcinoma
St. Anthony's fire
Stein-Leventhal syndrome
Stevens-Johnson syndrome
Stickler syndrome
Stiff man syndrome
Still's disease
Stomach cancer
Stomatitis
Strabismus
Strep throat
Strongyloidiasis
Strumpell-lorrain disease
Sturge-Weber syndrome
Subacute sclerosing...
Sudden infant death syndrome
Sugarman syndrome
Sweet syndrome
Swimmer's ear
Swyer syndrome
Sydenham's chorea
Syncope
Syndactyly
Syndrome X
Synovial osteochondromatosis
Synovial sarcoma
Synovitis
Syphilis
Syringomas
Syringomyelia
Systemic carnitine...
Systemic lupus erythematosus
Systemic mastocytosis
Systemic sclerosis
T
U
V
W
X
Y
Z
Medicines

SCID affects about 1 in 80,000 live births. These babies, if untreated, usually die within 1 year due to severe, recurrent infections. Chronic diarrhea, ear infections, recurrent Pneumocystis jiroveci pneumonia, and profuse oral candidiasis commonly occur. Treatment options are much improved since David Vetter, and living in a bubble is no longer necessary.

Types

IL-7 signalling pathway

Most cases of SCID are derived from mutations in the γc chain in the receptors for interleukins IL-2, IL-4, IL-7, IL-9 and IL-15. These interleukins and their receptors are involved in the development and differentiation of T and B cells. Deleterious mutations in the gamma-chain or in the JAK3 protein cause a form of SCID that is characterized by low numbers of T and NK cells, and presence of non-functional B cells.

The IL-2 receptor γ (IL-2Rγ) gene is located on the X chromosome and mutation of this gene causes X-linked SCID.

Janus kinase-3 (JAK3) is an enzyme that mediates transduction downstream of the γc signal. Mutation of its gene also causes SCID.

VDJ recombination

The manufacture of immunoglobulins requires recombinase enzymes derived from the recombination activating genes RAG-1 and RAG-2. These enzymes are involved in the first stage of VDJ recombination, the process by which segements of a B cell or T cell's DNA are rearranged to create a new T cell receptor or B cell receptor (and, in the B cell's case, the template for antibodies). Certain mutations of the RAG-1 or RAG-2 genes prevent VDJ recombination, causing SCID.

Adenosine deaminase

Another well-known form of SCID is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dGTP. This metabolite is toxic to lymphoid stem cells.

Detection

Standard testing of SCID is not performed for newborns due to the rarity of the disease and the cost of the testing. SCID can be detected by sequencing fetal DNA if a known history of the disease exists. Otherwise, SCID is not detected until about six months of age, usually indicated by recurrent infections. The delay in detection is due to the fact that newborns carry their mother's antibodies for the first few weeks of life and have not yet been exposed to any diseases.

Treatment

The most common treatment for SCID is bone marrow transplantation, which requires matched donors (a sibling is generally best). David Vetter, the original "bubble boy," endured several failed transplantations, and finally passed away because of an unscreened virus, Epstein-Barr, in his newly-transplanted bone marrow from his sister. Today, transplants done in the first three months of life have a high success rate.

Read more at Wikipedia.org


[List your site here Free!]


Severe combined immunodeficiency
From Gale Encyclopedia of Medicine, 4/6/01 by Rebecca J. Frey

Definition

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:

  • Swiss-type agammaglobulinemia. This was the first type of SCID discovered, in Switzerland in the 1950s.
  • Adenosine deaminase deficiency (ADA). About 50% of SCID cases are of this type. ADA deficiency leads to low levels of B and T cells in the child's immune system.
  • Autosomal recessive. About 40% of SCID cases are inherited from the parents in an autosomal recessive pattern.
  • Bare lymphocyte syndrome. In this form of SCID, the white blood cells (lymphocytes) in the baby's blood are missing certain proteins. Without these proteins, the lymphocytes cannot activate the T cells in the immune system.
  • SCID with leukopenia. Children with this form of SCID are lacking a type of white blood cell called a granulocyte.

In order to understand why SCID is considered the most severe immunodeficiency disorder, it is helpful to have an outline of the parts of the human immune system. It has three parts: cellular, humoral, and nonspecific. The cellular and humoral parts of the system are both needed to fight infections--they recognize disease agents and attack them. The cellular system is composed of many classes of T-lymphocytes (white blood cells that detect foreign invaders called antigens). The humoral system is made up of B-cells, which are the only cells in the body that make antibodies. In SCID, neither the cellular nor the humoral part of the immune system is working properly.

Causes & symptoms

SCID is an inherited disorder. There are two ways in which a developing fetus' immune system can fail to develop normally. In the first type of genetic problem, both B and T cells are defective. In the second type, only the T cells are abnormal, but their defect affects the functioning of the B cells.

For the first few months of life, a child with SCID is protected by antibodies in the mother's blood. As early as three months of age, however, the SCID child begins to suffer from mouth infections (thrush), chronic diarrhea, otitis media and pulmonary infections, including pneumocystis pneumonia. The child loses weight, becomes very weak, and eventually dies from an opportunistic infection.

Diagnosis

SCID is diagnosed by the typing of T and B cells in the child's blood. B cells can be detected by immunofluorescence tests for surface markers (unique proteins)on the cells. T cells can be identified in tissue sections (samples) using enzyme-labeled antibodies.

Treatment

Patients with SCID can be treated with antibiotics and immune serum to protect them from infections, but these treatments cannot cure the disorder. Bone marrow transplants are currently regarded as one of the few effective standard treatments for SCID.

Investigational treatments

In 1990, the Food and Drug Administration (FDA) approved PEG- ADA, an orphan drug (not available in US but available elsewhere), for the treatment of SCID. PEG-ADA, which is also called pegademase bovine, works by replacing the ADA deficiency in children with this form of SCID. Children who receive weekly injections of PEG-ADA appear to have normal immune functions restored. Another treatment that is still in the experimental stage is gene therapy. In gene therapy, the children receive periodic infusions of their own T cells corrected with a gene for ADA that has been implanted in an activated virus.

Prognosis

As of 1998, there is no cure for SCID. Most untreated patients die before age two.

Prevention

Genetic counseling is recommended for parents of a child with SCID.

Key Terms

Adenosine deaminase (ADA)
An enzyme that is lacking in a specific type of SCID. Children with an ADA deficiency have low levels of both B and T cells.
Antigens
A substance that usually causes the formation of an antibody. A foreign invaders in the body.
Autosomal recessive inheritance
A pattern of inheritance of a recessive gene where, among other things, both parents may not show symptoms.
B cell
A type of lymphocyte or white blood cell that is derived from precursor cells in the bone marrow.
Congenital
Present at the time of birth. Most forms of SCID are hereditary as well as congenital.
Gene therapy
An experimental treatment for SCID that consists of implanting a gene for ADA into an activated virus and merging it with some of the patient's own T cells. The corrected T cells are infused back into the patient every few months.
Humoral
Pertaining to or derived from a body fluid. The humoral part of the immune system includes antibodies and immunoglobulins in blood serum.
Lymphocyte
A type of white blood cell that is important in the formation of antibodies.
Orphan drug
A drug that is known to be useful in treatment but lacks sufficient funding for further research and development.
PEG-ADA
An orphan drug that is useful in treating SCID related to ADA deficiency.
T cells
Lymphocytes that originate in the thymus gland. T cells regulate the immune system's response to infections. The thymus gland is small or underdeveloped in children with SCID.
Thrush
A disease of the mouth caused by a yeast, .

Further Reading

For Your Information

    Books

  • Abbas, Abul K., et al. Cellular and Molecular Immunology. Philadelphia: W. B. Saunders Company, 1997.
  • "Immunology: Immunodeficiency Diseases." In The Merck Manual of Diagnosis and Therapy, edited by Robert Berkow, et al. Rahway, NJ: Merck Research Laboratories, 1992.
  • Physicians' Guide to Rare Diseases, edited by Jess G. Thoene. Montvale, NJ: Dowden Publishing Company, Inc., 1995.
  • Roitt, Ivan M. Roitt's Essential Immunology. Oxford, UK: Blackwell Science Ltd., 1997.

    Organizations

  • Immune Deficiency Foundation. 25 West Chesapeake Avenue, Suite 206, Towson, MD 21204. (410) 321-6647.
  • National Organization for Rare Disorders (NORD). P.O. Box 8923, New Fairfield, CT 06812-8923. (800) 999-NORD. (203) 746-6927 (TDD).

Gale Encyclopedia of Medicine. Gale Research, 1999.

Return to Severe combined immunodeficiency
Home Contact Resources Exchange Links ebay