JavaScript NENÍ povolen !

Prosím povolte JavaScript.

Článek

PubMed

Záznam pochází z PubMed

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

The Journal of allergy and clinical immunology. 2023 Oct ; 152 (4) : 984-996.e10. [epub] 20230628

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/pmid37390899

Grantová podpora
MR/M012328/2 Medical Research Council - United Kingdom
206618/Z/17/Z Wellcome Trust - United Kingdom

PubMed 37390899
DOI 10.1016/j.jaci.2023.06.015
PII: S0091-6749(23)00812-6
Knihovny.cz E-zdroje

Klíčová slova
APDS, CTLA4, ESID, IEI, NFKB1, PI3K, PIK3CD, PIK3R1, STAT3, immunodeficiency,
MeSH
1-fosfatidylinositol-3-kinasa * genetika MeSH
antigen CTLA-4 genetika MeSH
fosfatidylinositol-3-kinasy třídy I MeSH
fosfatidylinositol-3-kinasy genetika MeSH
lidé MeSH
mutace MeSH
primární imunodeficience * genetika MeSH
registrace MeSH
Check Tag
lidé MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH
Názvy látek
1-fosfatidylinositol-3-kinasa * MeSH
antigen CTLA-4 MeSH
fosfatidylinositol-3-kinasy třídy I MeSH
fosfatidylinositol-3-kinasy MeSH

BACKGROUND: Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but predictors of severe disease are lacking. OBJECTIVES: This study sought to report the extended spectrum of disease manifestations in APDS1 versus APDS2; compare these to CTLA4 deficiency, NFKB1 deficiency, and STAT3 gain-of-function (GOF) disease; and identify predictors of severity in APDS. METHODS: Data was collected from the ESID (European Society for Immunodeficiencies)-APDS registry and was compared with published cohorts of the other IEIs. RESULTS: The analysis of 170 patients with APDS outlines high penetrance and early onset of APDS compared to the other IEIs. The large clinical heterogeneity even in individuals with the same PIK3CD variant E1021K illustrates how poorly the genotype predicts the disease phenotype and course. The high clinical overlap between APDS and the other investigated IEIs suggests relevant pathophysiological convergence of the affected pathways. Preferentially affected organ systems indicate specific pathophysiology: bronchiectasis is typical of APDS1; interstitial lung disease and enteropathy are more common in STAT3 GOF and CTLA4 deficiency. Endocrinopathies are most frequent in STAT3 GOF, but growth impairment is also common, particularly in APDS2. Early clinical presentation is a risk factor for severe disease in APDS. CONCLUSIONS: APDS illustrates how a single genetic variant can result in a diverse autoimmune-lymphoproliferative phenotype. Overlap with other IEIs is substantial. Some specific features distinguish APDS1 from APDS2. Early onset is a risk factor for severe disease course calling for specific treatment studies in younger patients.

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Najít záznam

Citační ukazatele

Možnosti archivace