Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis
| Autor: | Jonathan Baets, Vincent Timmerman, Sara Sebnem Kilic, Bartu Sarisozen, Annelies Rotthier, Rifatcan Ozturk |
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| Přispěvatelé: | Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik İmmünoloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Ortopedi ve Travmatoloji Anabilim Dalı., Kılıç, Sara Şebnem, Öztürk, Rıfatcan, Sarısözen, Bartu, ABI-7283-2020, AAH-1658-2021 |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Hip dislocation
Neurology Insensitivity to pain Avascular necrosis Gene sequence Gene Hypogammaglobulinemia Autonomic neuropathy Immunoglobulins intravenous Congenital insensitivity to pain with anhidrosis Immunopathology Hereditary sensory and autonomic neuropathy Immunoglobulin deficiency DNA mutational analysis Recurrent disease Nerve growth-factor Anhidrosis Child Genetics (clinical) Immunodeficiency Priority journal Ntrk1 gene Genetics & heredity Cast application Sequence analysis Recurrent infection Immunologic deficiency syndromes Phenotype Clinical neurology Sensory neuropathy Female medicine.symptom Human musculoskeletal diseases medicine.medical_specialty Neurosciences & neurology Article Cellular and Molecular Neuroscience Disease association Case report Genetics medicine Immunoglobulin Congenital analgesia Neuropathy type-iv Dislocation Humans Pain insensitivity congenital Receptor trkA Hypohidrosis Autosomal recessive disorder Hip Gene deletion business.industry medicine.disease Dermatology Brace Hereditary Sensory and Autonomic Neuropathies Congenital Analgesia 1-Deoxysphingolipid Clinical feature Immunology Mutation School child Human medicine business |
| Zdroj: | Neurogenetics |
| ISSN: | 1364-6745 |
| Popis: | 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. University of Antwerp Belgian Federal Science Policy Office European Commission (P6/43) Association Belge contre les Maladies Neuromusculaires Medical Foundation Queen Elisabeth Institute for Science and Technology |
| Databáze: | OpenAIRE |
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