Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

doi:10.1056/NEJMoa1102140

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Article

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

The New England journal of medicine - 26 Jan 2012

Ombrello Michael J, Remmers Elaine F, Sun Guangping, Freeman Alexandra F, Datta Shrimati, Torabi-Parizi Parizad, Subramanian Naeha, Bunney Tom D, Baxendale Rhona W, Martins Marta S, Romberg Neil, Komarow Hirsh, Aksentijevich Ivona, Kim Hun Sik, Ho Jason, Cruse Glenn, Jung Mi-Yeon, Gilfillan Alasdair M, Metcalfe Dean D, Nelson Celeste, O'Brien Michelle, Wisch Laura, Stone Kelly, Douek Daniel C, Gandhi Chhavi, Wanderer Alan A, Lee Hane, Nelson Stanley F, Shianna Kevin V, Cirulli Elizabeth T, Goldstein David B, Long Eric O, Moir Susan, Meffre Eric, Holland Steven M, Kastner Daniel L, Katan Matilda, Hoffman Hal M, Milner Joshua D

Abstract excerpt

BACKGROUND: Mendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune tolerance. METHODS: We identified three families with a dominantly inherited complex of cold-induced urticaria, antibody deficiency, and susceptibil...

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Identifiers

PMID: 22236196
DOI: 10.1056/NEJMoa1102140
PMCID: PMC3298368

Genes

PLCG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22236196-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.PMID 22236196Read ↗

Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria.Semantic proximity Read ↗

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A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.Semantic proximity Read ↗

Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.Semantic proximity Read ↗

PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.Semantic proximity Read ↗

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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.Semantic proximity Read ↗

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GPCR-mediated Activation of PLCγ2 Initiates Dysregulated Recruitment of Neutrophils in Cold-induced Urticaria in PLAID PatientsSemantic proximity Read ↗

The role of PLCγ2 in immunological disorders, cancer, and neurodegenerationSemantic proximity Read ↗

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A new report of autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) with a homozygous pattern from Iran.Semantic proximity Read ↗

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