Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Pediatr Allergy Immunol. 2024 Nov;35(11):e14264. doi: 10.1111/pai.14264.
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.
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.
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.
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.
伴有部分白化病的原发性免疫缺陷病（先天性免疫缺陷）是一组常染色体隐性综合征，包括 Chediak-Higashi 综合征（CHS）、Griscelli 综合征 2 型（GS2）、Hermansky-Pudlak 综合征 2 型和 10 型（HPS2、HPS10）、Vici 综合征和 P14/LAMTOR2 缺乏症。
在过去的 10 年中，本研究评估了 25 例患者，包括 10 例 CHS、10 例 GS2 和 5 例 HPS2。使用 5 例眼皮肤白化病（OCA）和 5 例非白化病健康受试者作为两个对照组。通过全外显子组或面板测序或靶向 Sanger 测序进行基因分析。随后，通过外周血涂片和毛发轴的白细胞颗粒检查作为筛查试验。
10/10 CHS 患者的白细胞细胞质中仅存在巨粒。10/10 GS2 和 10/10 CHS 患者的毛发样本中观察到色素不均匀聚集和巨大黑色素颗粒。在 5/5 OCA 和 5/5 HPS2 患者中，毛发轴中间均有规则的色素。对所有患者进行了基因分析，发现 7 例 CHS 患者 LYST 基因有 7 个新变异，5 例 HPS2 患者 AP3B1 基因有 4 个新变异。
CHS 和 GS2 患者及时接受造血干细胞移植（HSCT）至关重要；因此，筛查试验可为这些患者的早期诊断提供重要线索。然而，CHS、GS2 和 HPS2 疾病的最终确认是通过基因检测来完成的。
