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Early Diagnosis of Immunodeficient Patients With Partial Albinism: The Role of Hair Study and Peripheral Blood Smear Publisher Pubmed



Tajik S1, 2 ; Fazlollahi MR1, 2 ; Alizadeh Z1, 2 ; Badalzadeh M1, 2 ; Houshmand M3 ; Razaghian A1, 2 ; Bahram S4, 5 ; Molitor A4 ; Carapito R4, 5 ; Shariat M6 ; Hamidieh AA7 ; Behniafard N8 ; Abdolkarimi B9 ; Rostami T10 Show All Authors
Authors
  1. Tajik S1, 2
  2. Fazlollahi MR1, 2
  3. Alizadeh Z1, 2
  4. Badalzadeh M1, 2
  5. Houshmand M3
  6. Razaghian A1, 2
  7. Bahram S4, 5
  8. Molitor A4
  9. Carapito R4, 5
  10. Shariat M6
  11. Hamidieh AA7
  12. Behniafard N8
  13. Abdolkarimi B9
  14. Rostami T10
  15. Moin M1, 2
  16. Pourpak Z1, 2
Show Affiliations
Authors Affiliations
  1. 1. Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
  4. 4. Laboratoire d'ImmunoRhumatologie Moleculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculte de Medecine, Federation Hospitalo-Universitaire OMICARE, Federation de Medecine Translationnelle de Strasbourg (FMTS), Institut Thematique Interdisciplinaire TRANSPLANTEX NG, Universite de Strasbourg, Strasbourg, France
  5. 5. Service d'Immunologie Biologique, Plateau Technique de Biologie, Pole de Biologie, Nouvel Hopital Civil, Strasbourg, France
  6. 6. Department of Immunology and Allergy, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Department of Pediatric Hematology and Oncology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  8. 8. Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
  9. 9. Department of pediatric hematology oncology, Lorestan University of Medical Sciences, Khoramabad, Iran
  10. 10. Pediatric Hematology, Oncology and Cell Therapy Research Institute for Oncology, Hematology and Cell Therapy (RIOHCT), Tehran University of Medical Sciences, Tehran, Iran

Source: Pediatric Allergy and Immunology Published:2024


Abstract

Background: 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-Pudlak Syndromes type 2 and 10 (HPS2, HPS10), Vici syndrome and P14/LAMTOR2 deficiency. Methods: Twenty-five patients including 10 CHS, 10 GS2, and 5 HPS2 were evaluated in this study within the last 10 years. 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. Results: 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 LYST gene for CHS patients and 4 novel variants in AP3B1 for HPS2 patients. Conclusion: 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. © 2024 European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.
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