Purtilo syndrome
Overview
A rare inherited immunodeficiency disorder where the body's immune systm is unable to respond appropriately to certain viral infections (Epstein Barr virus).
Symptoms
* Splenomegaly * Hepatomegaly * Sore throat * Jaundice * Fever * Lymphadenopathy * Inflammation * Fever * Pharyngitis * Enlarge lymph nodes * Enlarged liver * Enlarged spleen * Mononucleosis * Decreased gamma globulin levels in blood
Causes
SCID is usually transmitted as an autosomal recessive trait, although it may be X-linked. In most cases, the genetic defect seems associated with failure of the stem cell to differentiate into T and B lymphocytes. Many molecular defects such as mutation of the kinase ZAP-70 can cause SCID. X-linked SCID is due to a mutation of a subunit of the interleukin (IL)-2, IL-4, and IL-7 receptors. Less commonly, it results from an enzyme deficiency. SCID affects more males than females. Its estimated incidence is 1 in every 100,000 to 500,000 births. Most untreated patients die from infection within 1 year of birth.
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of X-linked lymphoproliferative syndrome. This medical information about signs and symptoms for X-linked lymphoproliferative syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of X-linked lymphoproliferative syndrome signs or X-linked lymphoproliferative syndrome symptoms. Furthermore, signs and symptoms of X-linked lymphoproliferative syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed X-linked lymphoproliferative syndrome symptoms.
Treatment
Treatment aims to restore the immune response and prevent infection. Histocompatible bone marrow transplantation is the only satisfactory treatment available to correct immunodeficiency. Because bone marrow cells must be human leukocyte antigen and mixed leukocyte culture matched, the most common donors are histocompatible siblings. However, because bone marrow transplant can produce a potentially fatal graft-versus-host (GVH) reaction, newer methods of bone marrow transplant that eliminate GVH reaction (such as lectin separation and the use of monoclonal antibodies) are being evaluated. Fetal thymus and liver transplants have achieved limited success. Immune globulin administration may also play a role in treatment. Some SCID infants have received long-term protection by being isolated in a completely sterile environment. However, this approach isn’t effective if the infant already has had recurring infections. Gene therapy is being used to treat ADA deficiency.