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Article

Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.

Neurogenetics - 1 Apr 2009

Kilic Sara Sebnem, Ozturk Rifatcan, Sarisozen Bartu, Rotthier Annelies, Baets Jonathan, Timmerman Vincent

Abstract excerpt

Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene, which encodes the receptor for nerve growth factor. We report the clinical course of a 7-year-old girl with CIPA and proven NTRK1 mutation. In addition to recurrent dislocation of the left hip joint and avascular necrosis of the left talus, the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19089473
DOI: 10.1007/s10048-008-0165-x

Genes

NTRK1

Provenance

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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Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.PMID 19089473Read ↗

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