{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,29]],"date-time":"2024-12-29T11:40:20Z","timestamp":1735472420220,"version":"3.32.0"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,29]]},"DOI":"10.7759\/cureus.76554","type":"journal-article","created":{"date-parts":[[2024,12,29]],"date-time":"2024-12-29T11:00:15Z","timestamp":1735470015000},"source":"Crossref","is-referenced-by-count":0,"title":["Recurrent Hospitalisation in a Child With Hypopigmented Hair: Inborn Errors of Immunity Emerge"],"prefix":"10.7759","author":[{"given":"Rajkumar","family":"Kundavaram","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harish","family":"Kadiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ujjawal","family":"Khurana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Narendra K","family":"Chaudhary","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bhavna","family":"Dhingra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Umair","family":"Bargir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shikha","family":"Malik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(78)90858-6","article-title":"A syndrome associating partial albinism and immunodeficiency","volume":"65","author":"Griscelli C","year":"1978","unstructured":"Griscelli C, Durandy A, Guy-Grand D, et al.. A syndrome associating partial albinism and immunodeficiency. Am J Med. 1978, 65:691-702. 10.1016\/0002-9343(78)90858-6","journal-title":"Am J Med"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI18264","article-title":"Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)","volume":"112","author":"M\u00e9nasch\u00e9 G","year":"2003","unstructured":"M\u00e9nasch\u00e9 G, Ho CH, Sanal O, et al.. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest. 2003, 112:450-6. 10.1172\/JCI18264","journal-title":"J Clin Invest"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.152.4.843","article-title":"Rab27a: a key to melanosome transport in human melanocytes","volume":"152","author":"Bahadoran P","year":"2001","unstructured":"Bahadoran P, Aberdam E, Mantoux F, et al.. Rab27a: a key to melanosome transport in human melanocytes. J Cell Biol. 2001, 152:843-50. 10.1083\/jcb.152.4.843","journal-title":"J Cell Biol"},{"key":"ref4","article-title":"Griscelli syndrome","volume":"69","author":"Ariffin H","year":"2014","unstructured":"Ariffin H, Geikowski A, Chin TF, Chau D, Arshad A, Abu Bakar K, Krishnan S. Griscelli syndrome. Med J Malaysia. 2014, 69:193-4.","journal-title":"Med J Malaysia"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2000","article-title":"Rab27a and Rab27b control different steps of the exosome secretion pathway","volume":"12","author":"Ostrowski M","year":"2010","unstructured":"Ostrowski M, Carmo NB, Krumeich S, et al.. Rab27a and Rab27b control different steps of the exosome secretion pathway. Nat Cell Biol. 2010, 12:19-30. 10.1038\/ncb2000","journal-title":"Nat Cell Biol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14370","article-title":"Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2","volume":"38","author":"Gotesman R","year":"2021","unstructured":"Gotesman R, Ramien M, Armour CM, Pham-Huy A, Kirshen C. Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2. Pediatr Dermatol. 2021, 38:194-7. 10.1111\/pde.14370","journal-title":"Pediatr Dermatol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2015.01.010","article-title":"Seizure as the presenting manifestation in Griscelli syndrome type 2","volume":"52","author":"Panigrahi I","year":"2015","unstructured":"Panigrahi I, Suthar R, Rawat A, Behera B. Seizure as the presenting manifestation in Griscelli syndrome type 2. Pediatr Neurol. 2015, 52:535-8. 10.1016\/j.pediatrneurol.2015.01.010","journal-title":"Pediatr Neurol"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2014-206703","article-title":"Cerebellar involvement of Griscelli syndrome type 2","volume":"2014","author":"I\u015fikay S","year":"2014","unstructured":"I\u015fikay S. Cerebellar involvement of Griscelli syndrome type 2. BMJ Case Rep. 2014, 2014:10.1136\/bcr-2014-206703","journal-title":"BMJ Case Rep"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1086\/341606","article-title":"Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A","volume":"71","author":"Anikster Y","year":"2002","unstructured":"Anikster Y, Huizing M, Anderson PD, et al.. Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. Am J Hum Genet. 2002, 71:407-14. 10.1086\/341606","journal-title":"Am J Hum Genet"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22357","article-title":"Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations","volume":"54","author":"Meeths M","year":"2010","unstructured":"Meeths M, Bryceson YT, Rudd E, et al.. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. Pediatr Blood Cancer. 2010, 54:563-72. 10.1002\/pbc.22357","journal-title":"Pediatr Blood Cancer"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1212\/NXI.0000000000000560","article-title":"Pediatric CNS-isolated hemophagocytic lymphohistiocytosis","volume":"6","author":"Benson LA","year":"2019","unstructured":"Benson LA, Li H, Henderson LA, et al.. Pediatric CNS-isolated hemophagocytic lymphohistiocytosis. Neurol Neuroimmunol Neuroinflamm. 2019, 6:e560. 10.1212\/NXI.0000000000000560","journal-title":"Neurol Neuroimmunol Neuroinflamm"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2005.11.1056","article-title":"Griscelli syndrome","volume":"55","author":"Malhotra AK","year":"2006","unstructured":"Malhotra AK, Bhaskar G, Nanda M, Kabra M, Singh MK, Ramam M. Griscelli syndrome. J Am Acad Dermatol. 2006, 55:337-40. 10.1016\/j.jaad.2005.11.1056","journal-title":"J Am Acad Dermatol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/sji.13034","article-title":"Diagnostic and therapeutic caveats in Griscelli syndrome","volume":"93","author":"Casta\u00f1o-Jaramillo LM","year":"2021","unstructured":"Casta\u00f1o-Jaramillo LM, Lugo-Reyes SO, Cruz Mu\u00f1oz ME, et al.. Diagnostic and therapeutic caveats in Griscelli syndrome. Scand J Immunol. 2021, 93:e13034. 10.1111\/sji.13034","journal-title":"Scand J Immunol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/266139-recurrent-hospitalisation-in-a-child-with-hypopigmented-hair-inborn-errors-of-immunity-emerge","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,29]],"date-time":"2024-12-29T11:00:18Z","timestamp":1735470018000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/266139-recurrent-hospitalisation-in-a-child-with-hypopigmented-hair-inborn-errors-of-immunity-emerge"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,29]]},"references-count":13,"URL":"https:\/\/doi.org\/10.7759\/cureus.76554","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,12,29]]}}}