Article

Molecular landscape of CTLA4 in Mexican patients: variants of unknown significance and clinical correlation

2025-12-24

Abstract excerpt

Background: CTLA-4 haploinsufficiency is characterized by hypogammaglobulinemia, recurrent infections and immune dysregulation. <h4>Aim:</h4> To describe clinical, laboratory and genetic characteristics of five patients with CTLA-4 haploinsufficiency. <h4>Methods:</h4> We performed exome sequencing in five patients with hypogammaglobulinemia, autoimmunity, pulmonary and gastrointestinal disease. Clinical data and...

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Literature Corpus work: 12164946-46e5-5064-a3bf-03a047dfb0ee
DOI: 10.22541/au.176656690.01805627/v1

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