title: Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.
abstract: 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 patient also presented with recurrent infections secondary to hypogammaglobulinemia, a feature not previously known to be associated with CIPA. The patient was treated with regular administration of intravenous immunoglobulins. Conservative treatment of the recurrent left hip dislocation by cast immobilization and bracing was implemented to stabilize the joint. The implication of the immune system of the reported patient broadens the clinical phenotype associated with NTRK1 mutations.
authors.affiliation: Department of Pediatric Immunology, Uludağ University School of Medicine, Gorukle, Bursa, 16059, Turkey. sebnemkl@uludag.edu.tr
authors.forename: Sara Sebnem
authors.initials: SS
authors.lastname: Kilic
authors.forename: Rifatcan
authors.initials: R
authors.lastname: Ozturk
authors.forename: Bartu
authors.initials: B
authors.lastname: Sarisozen
authors.forename: Annelies
authors.initials: A
authors.lastname: Rotthier
authors.forename: Jonathan
authors.initials: J
authors.lastname: Baets
authors.forename: Vincent
authors.initials: V
authors.lastname: Timmerman
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics*; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D000699:Pain Insensitivity, Congenital / Q000235:genetics* / Q000276:immunology; D010641:Phenotype; D020917:Receptor, trkA / Q000235:genetics
chemical_list: D016756:Immunoglobulins, Intravenous; D020917:Receptor, trkA