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PNP deficiency عوز أنزيم


PNP deficiency عوز أنزيم

المعلومة

SCID with neurologic deficits should be considered PNP deficiency until proven otherwise.

العوز المناعي المشترك الشديد المترافق مع آفات عصبية ؛ هو عوز بورين نكليوزيد فوسفوريلاز حتى يثبت العكس .

المرجع

Thomas P,Wayne H,Robert R.(2005).Pediatrics just the facts.The McGraw-Hill Companies.
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PURINE NUCLEOSIDE PHOSPHORYLASE (PNP) DEFICIENCY

EPIDEMIOLOGY
• PNP deficiency is a rare autosomal recessive immunodeficiency.
• More than 40 patients with CID have been found to have PNP deficiency.
• Mutations in the gene encoding PNP (14q13.1) are responsible for this immunodeficiency.
• In the absence of PNP, the urate precursors hypoxanthine
and xanthine are not formed and guanosine and deoxyguanosine build up, becoming toxic for T cells while decreased GTP causes CNS injury.
CLINICAL FEATURES
• Generalized vaccinia, varicella, lymphosarcoma, and GVHD mediated by T cells from nonirradiated allogeneic blood or bone marrow are fatal in this disorder.
• Neurologic abnormalities range from developmental delay, behavioral problems, and spasticity to mental retardation.
• Autoimmune diseases, such as autoimmune hemolytic anemia, thrombocytopenia, and vasculitis may be seen.
DIAGNOSIS AND DIFFERENTIAL DIAGNOSIS
• SCID with neurologic deficits should be considered PNP deficiency until proven otherwise.
• Most patients have normal or elevated concentrations of immunoglobulins.
• PNP-deficient patients are profoundly lymphopenic with absolute lymphocyte counts usually less than 500/mm3.
• T-cell function is low but not absent and varies with time.
• Serum and urinary uric acid are deficient.
• Measurement of erythrocyte PNP activity confirms the diagnosis.
TREATMENT AND PROGNOSIS
• PNP deficiency is fatal in childhood unless immunologic
reconstitution is achieved.
• Bone marrow transplantation is the treatment of choice but has limited success.

Thomas P,Wayne H,Robert R.(2005).Pediatrics just the facts.The McGraw-Hill Companies.

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dr.msh
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severe combined immunodeficiency (SCID)

an immunodeficiency in which there is absence of both humoral and cellular immunity with lymphopenia (of both B-type and T-type lymphocytes); characterized by thymus atrophy, lack of delayed hypersensitivity, and marked susceptibility to infections by bacteria, viruses, fungi, protozoa, and live vaccines; although bone marrow transplants have been effective, death may occur in the first year of life. Both autosomal recessive and X-linked forms occur; about one-half of those with autosomal recessive SCID have adenosine deaminase deficiency. The X-linked form is caused by mutation in the interleukin-2 receptor gamma gene (IL2RG) on Xq. Syn: Swiss type agammaglobulinemia.

Stedman's Medical Dictionary 5.0

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dr.msh
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Other wise SCID is caused by ADA " adenosin deaminase " deficency

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Hot sauce
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thank for this information
CID abreviation for what????
lymphopenia (of both B-type and T-type lymphocytes); is there deficiency in immunoglobulin as result of B cell number decrease??
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light of darkness
السنة الخامسة

*
Other wise SCID is caused by ADA " adenosin deaminase " deficency
The distinguishing features of ADA deficiency include the presence of multiple skeletal abnormalities of chondro-osseous dysplasia on radiographic
examination.

*
CID abreviation for what????
COMBINED IMMUNODEFICIENCY (CID)SYNDROMES
CID distinguishes patients with low, but not absent, T cell function from those with SCID.

*
severe combined immunodeficiency (SCID)
is there deficiency in immunoglobulin as result of B cell number decrease??

Assessing the absence or presence of NK cells and B cells help to determine the SCID phenotype. For example,patients with X-linked SCID usually have few or no T or NK cells but a normal or elevated number of B cells that do not produce immunoglobulin.

Source :
Thomas P,Wayne H,Robert R.(2005).Pediatrics just the facts.The McGraw-Hill Companies.

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