Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report.

Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis / diagnosis Child, Preschool Class I Phosphatidylinositol 3-Kinases Diagnostic Errors Humans Male Phosphatidylinositol 3-Kinase Phosphatidylinositol 3-Kinases
Case report E525G PIK3CD activated phosphoinositide 3-kinase delta syndrome anti-neutrophil cytoplasmic antibody-associated vasculitis rapamycin

Journal

The Journal of international medical research
ISSN: 1473-2300
Titre abrégé: J Int Med Res
Pays: England
ID NLM: 0346411

Informations de publication

Date de publication:
May 2021
Historique:
entrez: 27 5 2021
pubmed: 28 5 2021
medline: 29 5 2021
Statut: ppublish

Résumé

Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined inborn error of immunity mainly caused by

Identifiants

DOI: 10.1177/03000605211013222 PMID: 34039074 PMC: PMC8755648
pubmed: 34039074
doi: 10.1177/03000605211013222
pmc: PMC8755648
doi:

Substances chimiques

Class I Phosphatidylinositol 3-Kinases EC 2.7.1.137
Phosphatidylinositol 3-Kinase EC 2.7.1.137

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

3000605211013222

Références

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Auteurs

Xiaojing Zhang (X)

Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
ORCID: 0000-0002-3217-7105

Jingjing Wang (J)

Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Kun Zhu (K)

Department of Pathology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Yanyan Jin (Y)

Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Haidong Fu (H)

Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Jianhua Mao (J)

Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

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Classifications MeSH

questionsmedicales.fr › Maladies du système immunitaire › Maladies auto-immunes › Vascularites associées aux anticorps anti-cytoplasme des neutrophiles › Activated phosphoinositide 3-kinase delta...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Activated phosphoinositide 3-kinase delta...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Phosphatidylinositol 3-kinases › Phosphatidylinositol-4-phosphate 3-kinase › Phosphatidylinositol 3-kinases de classe I › Activated phosphoinositide 3-kinase delta...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Erreurs médicales › Erreurs de diagnostic › Activated phosphoinositide 3-kinase delta...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Activated phosphoinositide 3-kinase delta...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Phosphatidylinositol 3-kinases › Phosphatidylinositol 3-kinase › Activated phosphoinositide 3-kinase delta...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Phosphatidylinositol 3-kinases › Activated phosphoinositide 3-kinase delta...