Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F25%3A10490640" target="_blank" >RIV/00064203:_____/25:10490640 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/25:10490640

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=K224xSfknk" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=K224xSfknk</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jaci.2025.01.005" target="_blank" >10.1016/j.jaci.2025.01.005</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework

Popis výsledku v původním jazyce

BACKGROUND: The Clinical Genome Resource (ClinGen) is an international collaborative effort between scientists and clinicians, diagnostic and research laboratories as well as the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as Definitive, Strong, Moderate, and Limited based on available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be Disputed or Refuted. OBJECTIVES AND METHODS: The ClinGen Antibody Deficiencies Gene Curation Expert Panel (AD-GCEP), using the ClinGen framework, has classified genes related to Primary Antibody Deficiencies (PAD) that primarily affect B cell development and/or function and accounts for the largest proportion of Inborn Errors of Immunity (IEI) or Primary Immunodeficiencies (PIDs). RESULTS: The AD-GCEP curated a total of 65 genes associated with humoral immune defects to validate 74 gene-disease relationships. Of these, 40 gene-disease relationships were classified as Definitive, 1 as Strong, 16 as Moderate, 15 as Limited, and two as Disputed. The curation process involved the review of 490 patient records and 3,546 associated Human Phenotype Ontology (HPO) entries. The most frequently observed HPO terms related to PAD was decreased circulating antibody (Ab) level, pneumonia and lymphadenopathy. CONCLUSIONS: These curations represent the first effort by the Immunology Clinical Domain Working Group (CDWG) of ClinGen to provide a comprehensive genetic and phenotypic revision of genetic disorders affecting humoral immunity, and these were reviewed and approved by experts in the field. The curations are publicly available at www.clinicalgenome.org.

Název v anglickém jazyce

Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework

Popis výsledku anglicky

BACKGROUND: The Clinical Genome Resource (ClinGen) is an international collaborative effort between scientists and clinicians, diagnostic and research laboratories as well as the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as Definitive, Strong, Moderate, and Limited based on available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be Disputed or Refuted. OBJECTIVES AND METHODS: The ClinGen Antibody Deficiencies Gene Curation Expert Panel (AD-GCEP), using the ClinGen framework, has classified genes related to Primary Antibody Deficiencies (PAD) that primarily affect B cell development and/or function and accounts for the largest proportion of Inborn Errors of Immunity (IEI) or Primary Immunodeficiencies (PIDs). RESULTS: The AD-GCEP curated a total of 65 genes associated with humoral immune defects to validate 74 gene-disease relationships. Of these, 40 gene-disease relationships were classified as Definitive, 1 as Strong, 16 as Moderate, 15 as Limited, and two as Disputed. The curation process involved the review of 490 patient records and 3,546 associated Human Phenotype Ontology (HPO) entries. The most frequently observed HPO terms related to PAD was decreased circulating antibody (Ab) level, pneumonia and lymphadenopathy. CONCLUSIONS: These curations represent the first effort by the Immunology Clinical Domain Working Group (CDWG) of ClinGen to provide a comprehensive genetic and phenotypic revision of genetic disorders affecting humoral immunity, and these were reviewed and approved by experts in the field. The curations are publicly available at www.clinicalgenome.org.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30102 - Immunology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Allergy and Clinical Immunology

ISSN

0091-6749

e-ISSN

1097-6825

Svazek periodika

155

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

17

Strana od-do

1647-1663

Kód UT WoS článku

001488268900003

EID výsledku v databázi Scopus

2-s2.0-85217433632