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F r o m W i k i p e d i a , t h e f r e e e n c y c l o p e d i a
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.
Presentation [ edit ]
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]
Diagnosis [ edit ]
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]
Treatment [ edit ]
Hematopoietic stem cell transplantation is the only known cure for ZAP70 deficient SCID.[5]
Epidemiology [ edit ]
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]
References [ edit ]
^ a b c d Reference, Genetics Home. "ZAP70-related severe combined immunodeficiency" . Genetics Home Reference .
^ ZAP-70 Deficiency at The Merck Manual of Diagnosis and Therapy Professional Edition
^ "UpToDate" . www.uptodate.com .
Further reading [ edit ]
External links [ edit ]
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=ZAP70_deficiency&oldid=1182166307 "
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● T h i s p a g e w a s l a s t e d i t e d o n 2 7 O c t o b e r 2 0 2 3 , a t 1 5 : 1 3 ( U T C ) .
● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n .
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