ZAP70 deficiency

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ZAP70 deficiency
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.


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]


  1. ^ Online Mendelian Inheritance in Man (OMIM) 176947
  2. ^ Otsu M, Steinberg M, Ferrand C, et al. (2002). "Reconstitution of lymphoid development and function in ZAP-70-deficient mice following gene transfer into bone marrow cells". Blood. 100 (4): 1248–56. doi:10.1182/blood-2002-01-0247. PMID 12149205.
  3. ^ a b c d Reference, Genetics Home. "ZAP70-related severe combined immunodeficiency". Genetics Home Reference.
  4. ^ ZAP-70 Deficiency at Merck Manual of Diagnosis and Therapy Professional Edition
  5. ^ "UpToDate".

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