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Fig. 3 | Allergy, Asthma & Clinical Immunology

Fig. 3

From: Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature

Fig. 3

The family pedigree and chromatograms. Sanger sequencing confirmed a homozygous missense variant (c.845 T > C, p.Val282Ala) in exon 7 of the PGM3 gene in the index patient A. The mother B and father C were heterozygous for the variant. Squares, male; circle, female; solid symbols, affected subjects; slashed symbol, deceased subject

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Allergy, Asthma & Clinical Immunology

ISSN: 1710-1492

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