Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PLD4

PLD4 (phospholipase D family member 4)
EnsemblGeneIds (GRCh38): ENSG00000166428
EnsemblGeneIds (GRCh37): ENSG00000166428
PLD4 is in 2 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

5 patients with biallelic PLD4 loss-of-function (5 distinct genotypes; two recurrent alleles c.602G>A and c.968C>T) causing systemic lupus erythematosus 18, all with proliferative lupus nephritis; abolished single-stranded nucleic acid exonuclease activity with excess TLR7/TLR9 and type I interferon signalling, confirmed functionally and in Pld4-deficient mice. PMID 40931063. The source states 5 patients but does not state a kindred count in the accessible main text. PMID 41073790 is the publisher's Author Correction to the same paper (figure duplications only, no new patients), not an independent report. PMID 25052073 is an independent non-human model (bovine).
Created: 6 Oct 2026, 6:07 p.m. | Last Modified: 6 Oct 2026, 6:07 p.m.

Panel Version: 9.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Systemic lupus erythematosus 18 (SLE18) (MONDO:1060185)

Publications

Created: 6 Oct 2026, 6:07 p.m.
Last Modified: 6 Oct 2026, 6:07 p.m.
Panel version: 9.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Clinvar variants

Variants in PLD4

Penetrance

None

Panels with this gene

History Filter Activity

6 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PLD4 was added gene: PLD4 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: PLD4 was set to BIALLELIC, autosomal or pseudoautosomal

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: PLD4