X‐linked agammaglobulinaemia and squamous lung cancer

Echave-Sustaeta, José; Villena, Victoria; Verdugo, Maria; López-Encuentra, Ángel; Agustín, Pedro de; Alberti, N

doi:10.1183/09031936.01.17305700

Cited by 17 publications

(3 citation statements)

References 9 publications

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“…Because relatively few patients with XLA have survived into their fifties or sixties, it is difficult to predict how they will fare with complications common in the ‘mature’ adult, including hypertension, cardiac disease, diabetes, and malignancy. There are rare reports of malignancy in males with hypogammaglobulinemia and reduced numbers of B cells, but it is not clear that all of these patients had mutations in Btk (83, 109, 110). There is better evidence that there is an increased risk of gastrointestinal carcinoma in patients with XLA (111–115).…”

Section: Clinical Findings In Xlamentioning

confidence: 99%

Genetic analysis of patients with defects in early B‐cell development

Conley

Broides

Hernandez-Trujillo

et al. 2005

Immunological Reviews

174

139

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Approximately 85% of patients with defects in early B-cell development have X-linked agammaglobulinemia (XLA), a disorder caused by mutations in the cytoplasmic Bruton's tyrosine kinase (Btk). Although Btk is activated by cross-linking of a variety of cell-surface receptors, the most critical signal transduction pathway is the one initiated by the pre-B cell and B-cell antigen receptor complex. Mutations in Btk are highly diverse, and no single mutation accounts for more than 3% of patients. Although there is no strong genotype/phenotype correlation in XLA, the specific mutation in Btk is one of the factors that influences the severity of disease. Mutations in the components of the pre-B cell and B-cell antigen receptor complex account for an additional 5-7% of patients with defects in early B-cell development. Patients with defects in these proteins are clinically indistinguishable from those with XLA. However, they tend to be younger at the time of diagnosis, and whereas most patients with XLA have a small number of B cells in the peripheral circulation, these cells are not found in patients with defects in micro heavy chain or Igalpha. Polymorphic variants in the components of the pre-B cell and B-cell receptor complex, particularly micro heavy chain and lambda5, may contribute to the severity of XLA.

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Section: Clinical Findings In Xlamentioning

confidence: 99%

Genetic analysis of patients with defects in early B‐cell development

Conley

Broides

Hernandez-Trujillo

et al. 2005

Immunological Reviews

174

139

View full text Add to dashboard Cite

show abstract

“…Different reports quote a 1.5%-2% risk of malignancy development among patients with XLA. 5 It is notable that a relatively limited repertoire of cancers has been observed, mostly non-Hodgkin lymphomas and gastrointestinal cancers. However, literature reports about cancer incidence in XLA are conflicting, raising uncertainty about the cancer risk and localisation.…”

Section: Descriptionmentioning

confidence: 99%

Skin cancer in congenital X-linked agammaglobulinaemia

et al. 2021

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“…There are few reports of malignancies in males with hypogammaglobulinemia and reduced numbers of B cells, but it is not clear if all of these patients had mutations in BTK [Lederman et al, 1985;Echave-Sustaeta et al, 2001;Kanavaros et al, 2001]. There are few reports of malignancies in males with hypogammaglobulinemia and reduced numbers of B cells, but it is not clear if all of these patients had mutations in BTK [Lederman et al, 1985;Echave-Sustaeta et al, 2001;Kanavaros et al, 2001].…”

Section: Rationale For Gene Therapy Of Xlamentioning

confidence: 99%

Potential Application of Gene Therapy to X-Linked Agammaglobulinemia

Moreau

Calmels²,

Barlogis³

et al. 2007

CGT

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X-linked agammaglobulinemia (XLA), or Bruton's disease, is the most common human primary humoral immunodeficiency. XLA is caused by mutations of the Bruton's tyrosine kinase (BTK), a key regulator of B-cell physiology. Since the mid 80's, substitutive therapy by intravenous gammaglobulin infusions has significantly improved XLA patient survival and quality of life. Nevertheless, some frequent affections persist despite treatment, and lead to handicapping and further to morbid clinical complications for XLA individuals. Development of gene therapy by transfer of the BTK gene into hematopoietic progenitors could represent an alternative strategy for the treatment of Bruton's disease, with the advantage of a definitive cure for XLA patients. Gene therapy of XLA could be considered as a paradigm for future expansion of gene therapy approaches for many other diseases, since future utilization may be strictly dependent on a marked improvement of risk-benefit ratio compared to pre-existing treatments.

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X‐linked agammaglobulinaemia and squamous lung cancer

Cited by 17 publications

References 9 publications

Genetic analysis of patients with defects in early B‐cell development

Genetic analysis of patients with defects in early B‐cell development

Skin cancer in congenital X-linked agammaglobulinaemia

Potential Application of Gene Therapy to X-Linked Agammaglobulinemia

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