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Article

Frequency in Spanish population of familial complement factor 2 type I deficits and associated HLA haplotypes.

Human immunology - 1 Oct 2005

Antolín S Calleja, Del Rey Cerros M J, Sierra E Mancebo, Miñarro D Oliver, Clemente J, Martínez L Allende, Peña P Varela, Panete M J Castro, Pérez P Morales, Paz-Artal E

Abstract excerpt

We present two familial cases of complement factor 2 (C2) type I deficiency. Probands had experienced severe pyogenic bacteria infections in childhood and had undetectable levels of C2 and very low level of CH50. Both children were homozygous for the deletion of 28 bp in exon 6 of the C2 gene. Human leukocyte antigen (HLA) typing in family 1 had the commonly reported associations, but family 2 demonstrated a new...

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PMID: 16386652
DOI: 10.1016/j.humimm.2005.07.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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