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PubMed

Záznam pochází z PubMed

Therapeutic options for CTLA-4 insufficiency

The Journal of allergy and clinical immunology. 2022 Feb ; 149 (2) : 736-746. [epub] 20210607

J Allergy Clin Immunol
ISSN 1097-6825 | 0091-6749
Zdroj

Jazyk angličtina Země Spojené státy americké Médium print-electronic

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz https://www.medvik.cz/link/pmid34111452

Grantová podpora
K08 CA219473 NCI NIH HHS - United States

PubMed 34111452
DOI 10.1016/j.jaci.2021.04.039
PII: S0091-6749(21)00891-5
Knihovny.cz E-zdroje

Klíčová slova
CTLA-4, HSCT, LRBA, abatacept, common variable immunodeficiency, diagnosis, primary immunodeficiency, rituximab, sirolimus, treatment,
MeSH
agamaglobulinemie etiologie MeSH
antigen CTLA-4 nedostatek genetika MeSH
autoimunitní nemoci etiologie MeSH
dítě MeSH
dospělí MeSH
genetické asociační studie MeSH
homologní transplantace MeSH
intersticiální plicní nemoci etiologie MeSH
kojenec MeSH
lidé středního věku MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
předškolní dítě MeSH
senioři MeSH
syndromy imunologické nedostatečnosti komplikace genetika terapie MeSH
transplantace hematopoetických kmenových buněk MeSH
zárodečné mutace * MeSH
Check Tag
dítě MeSH
dospělí MeSH
kojenec MeSH
lidé středního věku MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
mužské pohlaví MeSH
předškolní dítě MeSH
senioři MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH
Názvy látek
antigen CTLA-4 MeSH
CTLA4 protein, human MeSH Prohlížeč

BACKGROUND: Heterozygous germline mutations in cytotoxic T lymphocyte-associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently being used with variable effectiveness. OBJECTIVE: Our aim was to characterize the responsiveness of patients with CTLA-4 insufficiency to specific therapies and provide recommendations for the diagnostic workup and therapy at an organ-specific level. METHODS: Clinical features, laboratory findings, and response to treatment were reviewed retrospectively in an international cohort of 173 carriers of CTLA4 mutation. Patients were followed between 2014 and 2020 for a total of 2624 months from diagnosis. Clinical manifestations were grouped on the basis of organ-specific involvement. Medication use and response were recorded and evaluated. RESULTS: Among the 173 CTLA4 mutation carriers, 123 (71%) had been treated for immune complications. Abatacept, rituximab, sirolimus, and corticosteroids ameliorated disease severity, especially in cases of cytopenias and lymphocytic organ infiltration of the gut, lungs, and central nervous system. Immunoglobulin replacement was effective in prevention of infection. Only 4 of 16 patients (25%) with cytopenia who underwent splenectomy had a sustained clinical response. Cure was achieved with stem cell transplantation in 13 of 18 patients (72%). As a result of the aforementioned methods, organ-specific treatment pathways were developed. CONCLUSION: Systemic immunosuppressants and abatacept may provide partial control but require ongoing administration. Allogeneic hematopoietic stem cell transplantation offers a possible cure for patients with CTLA-4 insufficiency.

Therapeutic options for CTLA-4 insufficiency

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