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ZAP70-Related Severe Combined Immunodeficiency

MedGen UID:
419767
•Concept ID:
C2931299
•
Disease or Syndrome
Synonyms: Selective T-Cell Defect; ZAP70 deficiency; Zap70-Related Scid; Zap70-Related Severe Combined Immunodeficiency; Zeta-Associated Protein 70 Deficiency; Zeta-associated-protein 70 deficiency
SNOMED CT: Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (716378008); Combined immunodeficiency due to ZAP70 deficiency (716378008); Combined immunodeficiency due to ZAP70 (Zeta-chain associated protein kinase 70) deficiency (716378008)

Definition

A very rare, severe, genetic, combined immunodeficiency disorder with characteristics of lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVZAP70-Related Severe Combined Immunodeficiency

Professional guidelines

PubMed

The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing.
Salemi N, Bakhshesh S, Bahreini A, Salehi R, Zamanifar A, Dehghan F, Sherkat R
Immunogenetics 2024 Dec;76(5-6):271-277. Epub 2024 Jul 18 doi: 10.1007/s00251-024-01347-7. PMID: 39023634
Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single-centre study.
Soyak Aytekin E, Keskin A, Tan C, Yalçın E, Dogru D, Ozcelik U, Kiper N, Tezcan I, Cagdas D
Scand J Immunol 2021 Oct;94(4):e13084. Epub 2021 Jul 28 doi: 10.1111/sji.13084. PMID: 34780073

Recent clinical studies

Etiology

Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single-centre study.
Soyak Aytekin E, Keskin A, Tan C, Yalçın E, Dogru D, Ozcelik U, Kiper N, Tezcan I, Cagdas D
Scand J Immunol 2021 Oct;94(4):e13084. Epub 2021 Jul 28 doi: 10.1111/sji.13084. PMID: 34780073
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M
Front Immunol 2019;10:23. Epub 2019 Feb 4 doi: 10.3389/fimmu.2019.00023. PMID: 30778343Free PMC Article
Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.
Cuvelier GD, Rubin TS, Wall DA, Schroeder ML
J Clin Immunol 2016 Oct;36(7):713-24. Epub 2016 Jul 20 doi: 10.1007/s10875-016-0316-z. PMID: 27438785
SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.
Hauck F, Blumenthal B, Fuchs S, Lenoir C, Martin E, Speckmann C, Vraetz T, Mannhardt-Laakmann W, Lambert N, Gil M, Borte S, Audrain M, Schwarz K, Lim A, Schamel WW, Fischer A, Ehl S, Rensing-Ehl A, Picard C, Latour S
Clin Immunol 2015 Dec;161(2):103-9. Epub 2015 Jul 14 doi: 10.1016/j.clim.2015.07.002. PMID: 26187144
Defining combined immunodeficiency.
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E
J Allergy Clin Immunol 2012 Jul;130(1):177-83. Epub 2012 Jun 2 doi: 10.1016/j.jaci.2012.04.029. PMID: 22664165

Diagnosis

Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single-centre study.
Soyak Aytekin E, Keskin A, Tan C, Yalçın E, Dogru D, Ozcelik U, Kiper N, Tezcan I, Cagdas D
Scand J Immunol 2021 Oct;94(4):e13084. Epub 2021 Jul 28 doi: 10.1111/sji.13084. PMID: 34780073
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M
Front Immunol 2019;10:23. Epub 2019 Feb 4 doi: 10.3389/fimmu.2019.00023. PMID: 30778343Free PMC Article
Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.
Cuvelier GD, Rubin TS, Wall DA, Schroeder ML
J Clin Immunol 2016 Oct;36(7):713-24. Epub 2016 Jul 20 doi: 10.1007/s10875-016-0316-z. PMID: 27438785
Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.
Karaca E, Karakoc-Aydiner E, Bayrak OF, Keles S, Sevli S, Barlan IB, Yuksel A, Chatila TA, Ozen M
Gene 2013 Jan 10;512(2):189-93. Epub 2012 Nov 2 doi: 10.1016/j.gene.2012.10.062. PMID: 23124046
Defining combined immunodeficiency.
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E
J Allergy Clin Immunol 2012 Jul;130(1):177-83. Epub 2012 Jun 2 doi: 10.1016/j.jaci.2012.04.029. PMID: 22664165

Therapy

Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single-centre study.
Soyak Aytekin E, Keskin A, Tan C, Yalçın E, Dogru D, Ozcelik U, Kiper N, Tezcan I, Cagdas D
Scand J Immunol 2021 Oct;94(4):e13084. Epub 2021 Jul 28 doi: 10.1111/sji.13084. PMID: 34780073
A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemia.
Ling E, Broides A, Ling G, Shubinsky G, Hadad N, Nahum A, Simon AJ, Lev A, Somech R
Immunol Res 2021 Feb;69(1):100-106. Epub 2021 Jan 23 doi: 10.1007/s12026-021-09172-w. PMID: 33484432
Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.
Cuvelier GD, Rubin TS, Wall DA, Schroeder ML
J Clin Immunol 2016 Oct;36(7):713-24. Epub 2016 Jul 20 doi: 10.1007/s10875-016-0316-z. PMID: 27438785
Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.
Karaca E, Karakoc-Aydiner E, Bayrak OF, Keles S, Sevli S, Barlan IB, Yuksel A, Chatila TA, Ozen M
Gene 2013 Jan 10;512(2):189-93. Epub 2012 Nov 2 doi: 10.1016/j.gene.2012.10.062. PMID: 23124046
Severe axillary lymphadenitis after BCG vaccination: alert for primary immunodeficiencies.
Santos A, Dias A, Cordeiro A, Cordinhã C, Lemos S, Rocha G, Faria E
J Microbiol Immunol Infect 2010 Dec;43(6):530-7. doi: 10.1016/S1684-1182(10)60082-5. PMID: 21195982

Prognosis

Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.
Cuvelier GD, Rubin TS, Wall DA, Schroeder ML
J Clin Immunol 2016 Oct;36(7):713-24. Epub 2016 Jul 20 doi: 10.1007/s10875-016-0316-z. PMID: 27438785

Clinical prediction guides

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M
Front Immunol 2019;10:23. Epub 2019 Feb 4 doi: 10.3389/fimmu.2019.00023. PMID: 30778343Free PMC Article
ZAP70 deficiency promotes reverse cholesterol transport through MAPK/ERK pathway in Jurkat cell.
Liu J, Guo K, Hu L, Luo T, Ma Y, Zhang Y, Lai W, Guo Z
Mol Immunol 2019 Mar;107:21-28. Epub 2019 Jan 10 doi: 10.1016/j.molimm.2019.01.001. PMID: 30639475
Dysregulation of Epstein-Barr Virus Infection in Hypomorphic ZAP70 Mutation.
Hoshino A, Takashima T, Yoshida K, Morimoto A, Kawahara Y, Yeh TW, Okano T, Yamashita M, Mitsuiki N, Imai K, Sakatani T, Nakazawa A, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Morio T, Kanegane H
J Infect Dis 2018 Jul 24;218(5):825-834. doi: 10.1093/infdis/jiy231. PMID: 29684201
Insight into the therapeutic aspects of 'Zeta-Chain Associated Protein Kinase 70 kDa' inhibitors: a review.
Kaur M, Singh M, Silakari O
Cell Signal 2014 Nov;26(11):2481-92. Epub 2014 Jul 15 doi: 10.1016/j.cellsig.2014.06.017. PMID: 25049080
Defining combined immunodeficiency.
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E
J Allergy Clin Immunol 2012 Jul;130(1):177-83. Epub 2012 Jun 2 doi: 10.1016/j.jaci.2012.04.029. PMID: 22664165

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