{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T10:51:32Z","timestamp":1758970292658},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2008,12,17]],"date-time":"2008-12-17T00:00:00Z","timestamp":1229472000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2009,4]]},"DOI":"10.1007\/s10048-008-0165-x","type":"journal-article","created":{"date-parts":[[2008,12,16]],"date-time":"2008-12-16T14:18:59Z","timestamp":1229437139000},"page":"161-165","source":"Crossref","is-referenced-by-count":19,"title":["Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis"],"prefix":"10.1007","volume":"10","author":[{"given":"Sara Sebnem","family":"Kilic","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rifatcan","family":"Ozturk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bartu","family":"Sarisozen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annelies","family":"Rotthier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan","family":"Baets","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Timmerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,12,17]]},"reference":[{"key":"165_CR1","first-page":"1065","volume-title":"Peripheral neuropathy","author":"PJ Dyck","year":"1993","unstructured":"Dyck PJ (1993) Neuronal atrophy and degenration predominantly affecting peripheral sensory and autonomic neurons. In: Dick PJ, Thomas PK, Griffin JW, Low PA, Griffin JW, Low PA et al (eds) Peripheral neuropathy. WB Saunders, Philadelphia, pp 1065\u20131093"},{"key":"165_CR2","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1177\/014107689809100210","volume":"91","author":"AE Haworth","year":"1998","unstructured":"Haworth AE, Ellison DW, Thomas NH, Walker J, Cook LJ (1998) Hereditary sensory and autonomic neuropathy with anhidrosis (type IV). J R Soc Med 91:84\u201386","journal-title":"J R Soc Med"},{"key":"165_CR3","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1038\/ng0896-485","volume":"13","author":"Y Indo","year":"1996","unstructured":"Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I (1996) Mutations in the TRKA\/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 13:485\u2013488. doi: 10.1038\/ng0896-485","journal-title":"Nat Genet"},{"key":"165_CR4","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/0887-8994(94)90091-4","volume":"11","author":"S Rosemberg","year":"1994","unstructured":"Rosemberg S, Marie SK, Kliemann S (1994) Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol 11:50\u201356. doi: 10.1016\/0887-8994(94)90091-4","journal-title":"Pediatr Neurol"},{"key":"165_CR5","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0887-8994(01)00278-8","volume":"25","author":"L Sztriha","year":"2001","unstructured":"Sztriha L, Lestringant GG, Hertecant J, Frossard PM, Masouy\u00e9 I (2001) Congenital insensitivity to pain with anhidrosis. Pediatr Neurol 25:63\u201366. doi: 10.1016\/S0887-8994(01)00278-8","journal-title":"Pediatr Neurol"},{"key":"165_CR6","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s10048-008-0121-9","volume":"9","author":"B T\u00fcys\u00fcz","year":"2008","unstructured":"T\u00fcys\u00fcz B, Bayrakli F, Diluna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M (2008) Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics 9:119\u2013125. doi: 10.1007\/s10048-008-0121-9","journal-title":"Neurogenetics"},{"key":"165_CR7","doi-asserted-by":"crossref","first-page":"13019","DOI":"10.1074\/jbc.272.20.13019","volume":"272","author":"N Ninkina","year":"1997","unstructured":"Ninkina N, Grashchuck M, Buchman VL, Davies AM (1997) TrkB variants with deletions in the leucine-rich motifs of the extracellular domain. J Biol Chem 272:13019\u201313025. doi: 10.1074\/jbc.272.20.13019","journal-title":"J Biol Chem"},{"key":"165_CR8","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1152\/physrev.1980.60.4.1284","volume":"60","author":"H Thoenen","year":"1980","unstructured":"Thoenen H, Barde YA (1980) Physiology of nerve growth factor. Physiol Rev 60:1284\u20131335","journal-title":"Physiol Rev"},{"key":"165_CR9","doi-asserted-by":"crossref","first-page":"10059","DOI":"10.1073\/pnas.86.24.10059","volume":"86","author":"U Otten","year":"1989","unstructured":"Otten U, Ehrhand P, Peck R (1989) Nerve growth factor induces growth and differentiation of human B lymphocytes. Proc Natl Acad Sci U S A 86:10059\u201310063. doi: 10.1073\/pnas.86.24.10059","journal-title":"Proc Natl Acad Sci U S A"},{"key":"165_CR10","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1023\/B:JOCI.0000029106.84310.5e","volume":"24","author":"I Melamed","year":"2004","unstructured":"Melamed I, Levy J, Parvari R, Gelfand EW (2004) A novel lymphocyte signaling defect: trk A mutation in the syndrome of congenital insensitivity to pain and anhidrosis (CIPA). J Clin Immunol 24:441\u2013448. doi: 10.1023\/B:JOCI.0000029106.84310.5e","journal-title":"J Clin Immunol"},{"key":"165_CR11","first-page":"35","volume":"5","author":"M Gharagozlou","year":"2006","unstructured":"Gharagozlou M, Zandieh F, Tabatabaei P, Zamani G (2006) Congenital sensory neuropathy as a differential diagnosis for phagocytic immunodeficiency. Iran J Allergy Asthma Immunol 5:35\u201337","journal-title":"Iran J Allergy Asthma Immunol"},{"key":"165_CR12","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1001\/archpedi.1979.02130110061011","volume":"133","author":"PA Vardy","year":"1979","unstructured":"Vardy PA, Greenberg LW, Kachel C, de Leon GF (1979) Congenital insensitivity to pain with anhydrosis. Report of a family and review of literature with reference to immune deficiency. Am J Dis Child 133:1153\u20131155","journal-title":"Am J Dis Child"},{"key":"165_CR13","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1055\/s-2005-872808","volume":"36","author":"R Barone","year":"2005","unstructured":"Barone R, Lempereur L, Anastasi M, Parano E, Pavone P (2005) Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them. Neuropediatrics 36:270\u2013273. doi: 10.1055\/s-2005-872808","journal-title":"Neuropediatrics"},{"key":"165_CR14","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1097\/00003086-199009000-00029","volume":"258","author":"Y Hasegawa","year":"1990","unstructured":"Hasegawa Y, Ninomiya M, Yamada Y, Hattori T (1990) Osteoarthropathy in congenital sensory neuropathy with anhidrosis. Clin Orthop Relat Res 258:232\u2013236","journal-title":"Clin Orthop Relat Res"},{"key":"165_CR15","doi-asserted-by":"crossref","first-page":"829","DOI":"10.2106\/00004623-198062050-00021","volume":"62","author":"JM Roberts","year":"1980","unstructured":"Roberts JM, Taylor J, Burke S (1980) Recurrent dislocation of the hip in congenital indifference to pain: case report with arthrographic and operative findings. J Bone Joint Surg Am 62:829\u2013831","journal-title":"J Bone Joint Surg Am"},{"key":"165_CR16","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1302\/0301-620X.81B1.9270","volume":"81","author":"G K\u00f6ster","year":"1999","unstructured":"K\u00f6ster G, von Knoch M, Willert HG (1999) Unsuccessful surgical treatment of hip dislocation in congenital sensory neuropathy with anhidrosis. A case report. J Bone Joint Surg Br 81:102\u2013105. doi: 10.1302\/0301-620X.81B1.9270","journal-title":"J Bone Joint Surg Br"},{"key":"165_CR17","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1750-1172-2-39","volume":"2","author":"FB Axelrod","year":"2007","unstructured":"Axelrod FB, Gold-von Simson G (2007) Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J Rare Dis 2:39. doi: 10.1186\/1750-1172-2-39","journal-title":"Orphanet J Rare Dis"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-008-0165-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-008-0165-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-008-0165-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T23:49:57Z","timestamp":1684799397000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-008-0165-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,17]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["165"],"URL":"https:\/\/doi.org\/10.1007\/s10048-008-0165-x","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,17]]}}}