ZAP70 deficiency | |
---|---|
Other names | ZAP70 deficient SCID |
ZAP70 deficiency has an autosomal recessive pattern of inheritance. |
ZAP70 deficiency, or ZAP70 deficient SCID, [1] is a rare autosomal recessive form of severe combined immunodeficiency (SCID) resulting in a lack of CD8+ T cells. [2] People with this disease lack the capability to fight infections, and it is fatal if untreated.
It is cause by a mutation in the ZAP70 gene.
Children with this condition typically present with infections and skin rashes. [3] Unlike many forms of SCID, absolute lymphocyte count is normal and thymus is present.[ citation needed]
ZAP70 deficiency SCID is caused by a mutation is the ZAP70 gene, which is involved in the development of T cells. [3]
It is characterized by a lack of CD8+ T cells and the presence of circulating CD4+ T cells which are unresponsive to T-cell receptor (TCR)-mediated stimuli. [4] Diagnosis is usually made within the first six months of life. Genetic testing is required. [3]
Hematopoietic stem cell transplantation is the only known cure for ZAP70 deficient SCID. [5]
ZAP70 deficiency SCID is estimated to occur in approximately 1 in 50,000 people. Fewer than fifty people with this condition have been identified. [3]
ZAP70 deficiency | |
---|---|
Other names | ZAP70 deficient SCID |
ZAP70 deficiency has an autosomal recessive pattern of inheritance. |
ZAP70 deficiency, or ZAP70 deficient SCID, [1] is a rare autosomal recessive form of severe combined immunodeficiency (SCID) resulting in a lack of CD8+ T cells. [2] People with this disease lack the capability to fight infections, and it is fatal if untreated.
It is cause by a mutation in the ZAP70 gene.
Children with this condition typically present with infections and skin rashes. [3] Unlike many forms of SCID, absolute lymphocyte count is normal and thymus is present.[ citation needed]
ZAP70 deficiency SCID is caused by a mutation is the ZAP70 gene, which is involved in the development of T cells. [3]
It is characterized by a lack of CD8+ T cells and the presence of circulating CD4+ T cells which are unresponsive to T-cell receptor (TCR)-mediated stimuli. [4] Diagnosis is usually made within the first six months of life. Genetic testing is required. [3]
Hematopoietic stem cell transplantation is the only known cure for ZAP70 deficient SCID. [5]
ZAP70 deficiency SCID is estimated to occur in approximately 1 in 50,000 people. Fewer than fifty people with this condition have been identified. [3]