Article
Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Nov 2024
Tajik Shaghayegh, Fazlollahi Mohammad Reza, Alizadeh Zahra, Badalzadeh Mohsen, Houshmand Massoud, Razaghian Anahita, Bahram Seiamak, Molitor Anne, Carapito Raphael, Shariat Mansoureh, Hamidieh Amir Ali, Behniafard Nasrin, Abdolkarimi Babak, Rostami Tahereh, Moin Mostafa, Pourpak Zahra
Abstract excerpt
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...
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