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Article

Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies.

International journal of molecular sciences - 15 May 2024

Sarrou Styliani, Voulgaridi Ioanna, Fousika Athanasia, Dadouli Katerina, Margaritopoulou Olympia, Kakkas Ioannis, Hadjichristodoulou Christos, Kalala Fani, Speletas Matthaios

Abstract excerpt

Patients with predominantly antibody deficiencies (PADs) display hypogammaglobulinemia with a high prevalence of infections, along with autoimmune manifestations, benign and malignant lymphoproliferation and granulomatous disease. It is noteworthy that PAD patients, even those with defects in the same causative genes, display a variable clinical phenotype, suggesting that additional genetic polymorphisms, located...

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Identifiers

PMID: 38791420
DOI: 10.3390/ijms25105382
PMCID: PMC11120870

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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