Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in <i>RAB27A</i> gene in a patient

Tajik, Shaghayegh; Badalzadeh, Mohsen; Houshmand, Massoud; Alizadeh, Zahra; Moradi, Leila; Hamidieh, Amir Ali; Shafiei, Alireza; heris, Javad Ahmadiani; Bahram, Seiamak; Molitor, Anne; Carapito, Raphaël; Moin, Mostafa; Fazlollahi, Mohammad Reza; Pourpak, Zahra

doi:10.1111/sji.13264

Scand J Immunol

2023

DOI: 10.1111/sji.13264

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Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient

Shaghayegh Tajik

Mohsen Badalzadeh

Massoud Houshmand

et al.

Abstract: Griscelli syndrome type 2 (GS2) is an autosomal recessive immunodeficiency characterized by hair hypopigmentation, recurrent fever, hepatosplenomegaly and pancytopenia. This study aims to find new genetic changes and clinical features in 18

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2024

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Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear

Tajik,

Fazlollahi,

Alizadeh

et al. 2024

Pediatric Allergy Immunology

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BackgroundPrimary 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.MethodsTwenty‐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.ResultsGiant 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.ConclusionReceiving 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.

show abstract

Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear

Tajik,

Fazlollahi,

Alizadeh

et al. 2024

Pediatric Allergy Immunology

View full text Add to dashboard Cite

show abstract

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Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient

Abstract: Griscelli syndrome type 2 (GS2) is an autosomal recessive immunodeficiency characterized by hair hypopigmentation, recurrent fever, hepatosplenomegaly and pancytopenia. This study aims to find new genetic changes and clinical features in 18

Cited by 1 publication

References 31 publications

Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear

Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear

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