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Case Reports
. 2022 Apr 29:11:31.
doi: 10.4103/abr.abr_169_21. eCollection 2022.

Spontaneous Regression of Diffuse Large B-cell Lymphoma in a Patient with Ataxia-Telangiectasia

Roya Sherkat  1 , Noushin Afshar Moghaddam  2 , Nahid Reisi  3   4 , Marzieh Rezaei  5
Affiliations
Case Reports

Spontaneous Regression of Diffuse Large B-cell Lymphoma in a Patient with Ataxia-Telangiectasia

Roya Sherkat et al. Adv Biomed Res. .

Abstract

Ataxia-telangiectasia (AT) is a type of primary immunodeficiency characterized by an autosomal recessive mode of inheritance and usually presents with progressive cerebellar ataxia in early life. This complex disease is associated with humoral and cellular immune dysfunction and other features including characteristic oculocutaneous telangiectasia and increased predisposition to cancers, particularly lymphoma and leukemia. An 11-year-old Iranian girl presented with primary immunodeficiency and was diagnosed as having AT according to her clinical manifestations and molecular findings. She had a history of two types of non-Hodgkin's lymphoma and showed spontaneous regression of her diffuse large B-cell lymphoma without any specific treatment. Gene mutations and dysfunction in patients with AT result in different manifestations including abnormal development of the thymus, immunodeficiency, increased susceptibility to malignancies, and increased radiosensitivity. No standard treatment is available for these patients. The use of immunotherapeutic strategies in patients with primary immune deficiency disease-associated tumors is potentially important.

Keywords: Ataxia–telangiectasia; diffuse large B-cell lymphoma; non-Hodgkin's lymphomas; spontaneous regression.

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Conflict of interest statement

There are no conflicts of interest.

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References

    1. Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: A review. Orphanet J Rare Dis. 2016;11:159. - PMC - PubMed
    1. Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) 2004;3:1187–96. - PubMed
    1. Yanofsky RA, Seshia SS, Dawson AJ, Stobart K, Greenberg CR, Booth FA, et al. Ataxia-telangiectasia: Atypical presentation and toxicity of cancer treatment. Can J Neurol Sci. 2009;36:462–7. - PubMed
    1. Staples ER, McDermott EM, Reiman A, Byrd PJ, Ritchie S, Taylor AM, et al. Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene. Clin Exp Immunol. 2008;153:214–20. - PMC - PubMed
    1. Haas OA. Primary immunodeficiency and cancer predisposition revisited: Embedding two closely related concepts into an integrative conceptual framework. Front Immunol. 2018;9:3136. - PMC - PubMed

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