{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T12:32:34Z","timestamp":1791549154786,"version":"4.3.4"},"reference-count":30,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012155","name":"National Institute for Medical Research Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012155","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Primary immunodeficiency diseases (inborn errors of immunity) with partial albinism are a group of autosomal recessive syndromes including Chediak Higashi Syndrome (CHS), Griscelli Syndrome type 2 (GS2), Hermansky\u2010Pudlak Syndromes type 2 and 10 (HPS2, HPS10), Vici syndrome and P14\/LAMTOR2 deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty\u2010five patients including 10 CHS, 10 GS2, and 5 HPS2 were evaluated in this study within the last 10\u2009years. Five cases with oculocutaneous albinism (OCA) and 5 healthy subjects without albinism were used as two control groups. Genetic analyses were performed by whole exome or panel sequencing or targeted Sanger sequencing. Subsequently, leukocyte granules in peripheral blood smear and hair shaft were examined as screening tests.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Giant granules were only presented in the leukocytes cytoplasm of 10\/10 CHS patients. The uneven cluster of pigments and giant melanin granules in hair samples were observed in 10\/10 GS2 and 10\/10 CHS patients, respectively. In both 5\/5 OCA and 5\/5 HPS2 patients, there were regular pigments in the middle of hair shafts. Genetic analyses were performed for all patients, revealing 7 novel variants in <jats:italic>LYST<\/jats:italic> gene for CHS patients and 4 novel variants in <jats:italic>AP3B1<\/jats:italic> for HPS2 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Receiving hematopoietic stem cell transplantation (HSCT) in a timely manner is crucial in CHS and GS2 patients; therefore, screening tests may provide a vital clue for early diagnosis in these patients. However, the final confirmation of CHS, GS2, and HPS2 disorders is done by genetic assay.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pai.14264","type":"journal-article","created":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T12:54:52Z","timestamp":1730465692000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2465-4717","authenticated-orcid":false,"given":"Shaghayegh","family":"Tajik","sequence":"first","affiliation":[{"name":"Immunology Asthma and Allergy Research Institute, Tehran University of Medical Sciences  Tehran Iran"},{"name":"Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Reza","family":"Fazlollahi","sequence":"additional","affiliation":[{"name":"Immunology Asthma and Allergy Research Institute, Tehran University of Medical Sciences  Tehran Iran"},{"name":"Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Alizadeh","sequence":"additional","affiliation":[{"name":"Immunology Asthma and Allergy Research Institute, Tehran University of Medical Sciences  Tehran Iran"},{"name":"Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohsen","family":"Badalzadeh","sequence":"additional","affiliation":[{"name":"Immunology Asthma and Allergy Research Institute, Tehran University of Medical Sciences  Tehran 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M\u00e9decine, F\u00e9d\u00e9ration Hospitalo\u2010Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS) Institut Th\u00e9matique Interdisciplinaire TRANSPLANTEX NG, Universit\u00e9 de Strasbourg  Strasbourg France"},{"name":"Service d'Immunologie Biologique, Plateau Technique de Biologie, P\u00f4le de Biologie, Nouvel H\u00f4pital Civil  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Molitor","sequence":"additional","affiliation":[{"name":"Laboratoire d'ImmunoRhumatologie Mol\u00e9culaire, plateforme GENOMAX, INSERM UMR_S 1109, Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo\u2010Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS) Institut Th\u00e9matique Interdisciplinaire TRANSPLANTEX NG, Universit\u00e9 de Strasbourg  Strasbourg 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