ZAP70 deficiency

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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.

Symptom and signs

a) Family pedigree b-d) renal biopsy b) hematoxylin/eosin stain - increased glomerular mesangial matrix (C) immunofluorescence- mesangium and capillary loops d) electron microscopy- foot process effacement (red arrows) e-h) Bullous pemphigoid g-h) before and after hematopoietic cell transplantation.

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] The clinical presentation of this condition is:[4]

  • Chronic oral thrush
  • Recurrent gastrointestinal infections
  • Eosinophilia
  • Hepatosplenomegaly
  • Lymphadenitis
  • Swollen lymph nodes
  • Recurrent bacterial skin infect
  • Skin rash
  • Stroke
  • Recurrent opportunistic infection
  • Stomatitis


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.[5] 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.[6]


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.{{cite journal}}: CS1 maint: url-status (link)
  3. 3.0 3.1 3.2 3.3 Reference, Genetics Home. "ZAP70-related severe combined immunodeficiency". Genetics Home Reference. Archived from the original on 2020-10-01. Retrieved 2020-10-19.
  4. "ZAP-70 deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". Archived from the original on 11 April 2021. Retrieved 18 August 2021.
  5. ZAP-70 Deficiency at Merck Manual of Diagnosis and Therapy Professional Edition
  6. "UpToDate". Archived from the original on 2018-07-11. Retrieved 2020-10-19.

Further reading

External links

External resources