Different Clinical and Immunological Presentation of Ataxia-Telangiectasia within the Same Family

Soresina, Annarosa; Meini, Antonella; Lougaris, Vassilios; Cattaneo, G; Pellegrino, Salvatore; Piane, Maria; Darra, Francesca; Plebani, Alessandro

doi:10.1055/s-2008-1076736

Cited by 31 publications

(23 citation statements)

References 8 publications

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“…Another characteristic finding reported in this study was the presence of absolute CD4 lymphocytopenia. Similar cases have also been reported from Israel, Italy and Iran [2][3][4].…”

supporting

confidence: 82%

Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome

et al. 2015

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“…Another characteristic finding reported in this study was the presence of absolute CD4 lymphocytopenia. Similar cases have also been reported from Israel, Italy and Iran [2][3][4].…”

supporting

confidence: 82%

Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome

et al. 2015

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“…In fact, 1 patient was initially diagnosed with female HIGM syndrome with mild ataxia. Recent study has shown the immunological phenotype could be reminiscent of hyper-IgM syndrome in patients with AT [27,39], and our study has shown the hyper-IgM phenotype is not rare in the patients.…”

Section: Discussionmentioning

confidence: 55%

Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan

et al. 2009

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A nationwide survey was conducted for identifying ataxia-telangiectasia (AT) patients in Japan. Eighty-nine patients were diagnosed between 1971 and 2006. Detailed clinical and laboratory data of 64 patients including affected siblings were collected. Analyses focused on malignancy, therapy-related toxicity, infection, and hematological/immunological parameters. The phenotypic variability of AT was assessed by comparing 26 affected siblings from 13 families. Malignancy developed in 22% of the cases and was associated with a high rate of severe therapy-related complications: chemotherapy-related cardiac toxicity in 2 children, and severe hemorrhagic cystitis requiring surgery in 2 patients. The frequency of serious viral infections correlated with the T cell count. Hypogammaglobulinemia with hyper-IgM (HIGM) was recorded in 5 patients, and 3 patients developed panhypogammaglobulinemia. Differences in immunological parameters were noted in siblings. Four patients showed an HIGM phenotype, in contrast to their siblings with normal IgG and IgM levels. The patients with HIGM phenotype showed reduced levels of TRECs and CD27+CD20+ memory B cells. The findings suggest that hitherto unidentified modifier genes or exogenous environmental factors can influence the overall immune responses. Our data along with future prospective study will lead to better understanding of the hematological/immunological phenotypes and to better care of the patients.

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“…The clinical and immunological presentation of ataxiatelangiectasia may differ even within the same family, as described by Soresina et al [1]. Most patients tend to be wheelchair bound by their second decade.…”

Section: Discussionmentioning

confidence: 73%

A Case of Persistent Pneumonia In A Patient Of Ataxia Telangiectasia

Mannaa¹

2017

JPNC

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Ataxia telangiectasia (AT) homozygotes have an increased risk for development of malignancies. Our patient, despite frequent courses of antibiotics, displayed persistent pulmonary infiltration, fever, and mediastinal enlarged lymph nodes on thoracic computed tomography. No infectious etiologies were established for the persistent pulmonary findings by fine needle biopsy, bronchopulmonary lavage and core lung biopsy. Histopathological examination of core lung biopsy revealed Hodgkin disease (HD).

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Different Clinical and Immunological Presentation of Ataxia-Telangiectasia within the Same Family

Cited by 31 publications

References 8 publications

Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome

Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome

Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan

A Case of Persistent Pneumonia In A Patient Of Ataxia Telangiectasia

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