Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.

Kilic S. Ş., Ozturk R., Sarisozen B., Rotthier A., Baets J., Timmerman V.

Neurogenetics, cilt.10, sa.2, ss.161-5, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10 Sayı: 2
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1007/s10048-008-0165-x
  • Dergi Adı: Neurogenetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.161-5
  • Anahtar Kelimeler: Hereditary sensory and autonomic neuropathy, Insensitivity to pain, Hip dislocation, Immunodeficiency, Hypogammaglobulinemia, NERVE GROWTH-FACTOR, NEUROPATHY TYPE-IV, AUTONOMIC NEUROPATHY, SENSORY NEUROPATHY, MUTATION, DISLOCATION, HIP
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.