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Your search keyword '"Bayegi, Shideh Namazi"' showing total 5 results
Start Over Author "Bayegi, Shideh Namazi" Publication Type Academic Journals
5 results on '"Bayegi, Shideh Namazi"'

4. Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series.

Author

Jamee M, Sharafian S, Eslami N, Bayegi SN, Keramatipour M, Nabavi M, Shokri S, Shakiba M, Shamsian BS, Abolghasemi H, Vahidshahi K, Khanbabaee G, Armin S, Chavoshzadeh Z, and Mesdaghi M

Subjects
Humans, Female, Male, Cross-Sectional Studies, Child, Adolescent, Young Adult, Child, Preschool, Immunophenotyping, Infant, Lymphoproliferative Disorders immunology, Lymphoproliferative Disorders diagnosis, Lymphoproliferative Disorders genetics, T-Lymphocyte Subsets immunology, Adult, Autoimmune Lymphoproliferative Syndrome immunology, Autoimmune Lymphoproliferative Syndrome diagnosis, Autoimmune Lymphoproliferative Syndrome genetics
Abstract

Background: Elevated level of double-negative T (DNT) cells is a historical hallmark of autoimmune lymphoproliferative syndrome (ALPS) diagnosis. However, the peripheral blood level of DNT cells might also be compromised in autoimmune lymphoproliferative immunodeficiencies (ALPID) other than ALPS, inattention to which would increase the delay in diagnosis of the underlying genetic defect and hinder disease-specific treatment., Materials and Methods: This cross-sectional study recruited patients suffering from ALPID (exclusion of ALPS) with established genetic diagnosis. Following thorough history taking, immunophenotyping for lymphocyte subsets was performed using BD FACS CaliburTM flowcytometry., Results: Fifteen non-ALPS ALPID patients (60% male and 40% female) at a median (interquartile range: IQR) age of 14.0 (7.6-21.8) years were enrolled. Parental consanguinity and family history of immunodeficiency were present in 8 (53.3%) patients. The median (IQR) age at first presentation, clinical and molecular diagnosis were 18 (4-36) months, 8.0 (4.0-17.0) years, and 9.5 (5.0-20.9) years, respectively. Molecular defects were observed in these genes: LRBA (3, 20%), CTLA-4 (2, 13.3%), BACH2 (2, 13.3%), AIRE (2, 13.3%), and FOXP3, IL2R β, DEF6, RASGRP1, PIK3CD , and PIK3R1 each in one patient (6.7%). The most common manifestations were infections (14, 93.3%), autoimmunity (12, 80%), and lymphoproliferation (10, 66.7%). The median (IQR) count of white blood cells (WBCs) and lymphocytes were 7160 (3690-12,600) and 3266 (2257-5370) cells/mm3, respectively. The median (IQR) absolute counts of CD3+ T lymphocytes and DNTs were 2085 (1487-4222) and 18 (11-36) cells/mm3, respectively. Low lymphocytes and low CD3+ T cells were observed in 3 (20%) patients compared to normal age ranges. Only one patient with FOXP3 mutation had DNT cells higher than the normal range for age., Conclusions: Most non-ALPS ALPID patients manifested normal DNT cell count. For a small subgroup of patients with high DNT cells, defects in other IEI genes may explain the phenotype and should be included in the diagnostic genetic panel., Competing Interests: The authors declare no conflict of interest.

Published
2024
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5. The Reconstitution of T-cells after Allogeneic Hematopoietic Stem Cell Transplant in a Pediatric Patient with Congenital Amegakaryocytic Thrombocytopenia (CAMT).

Author

Bayegi SN, Hamidieh AA, Behfar M, Saghazadeh A, Bozorgmehr M, Tajik N, Delbandi AA, Delavari S, Shekarabi M, and Rezaei N

Subjects
Female, Humans, Child, T-Lymphocytes, Thrombocytopenia diagnosis, Thrombocytopenia therapy, Thrombocytopenia genetics, Hematopoietic Stem Cell Transplantation adverse effects, Graft vs Host Disease diagnosis, Graft vs Host Disease etiology, Congenital Bone Marrow Failure Syndromes
Abstract

Background: Congenital amegakaryocytic thrombocytopenia (CAMT) is a bone marrow failure syndrome with autosomal recessive inheritance characterized by the lack of megakaryocytes and thrombocytopenia. The cause of the disease is a mutation in the c-Mpl gene, which encodes the thrombopoietin (TPO) receptor. The main treatment for this genetic disorder is an allogeneic hematopoietic stem cell transplant (allo-HSCT). However, transplant-related mortality, development of acute and chronic graft-versushost disease (GvHD), and susceptibility to opportunistic infections are major barriers to transplantation. Delay in the reconstitution of T cells and imbalance in the regeneration of distinct functional CD4 and CD8 T-cell subsets mainly affect post-transplant complications. We report a case of CAMT, who developed acute GvHD but had no signs and symptoms of chronic GvHD following allo-HSCT., Case Presentation: At the age of four, she presented with petechiae and purpura. In laboratory investigations, pancytopenia without organomegaly, and cellularity less than 5% in bone marrow biopsy, were observed. A primary diagnosis of idiopathic aplastic anemia was made, and she was treated with prednisolone, cyclosporine, and anti-thymocyte globulin (ATG), which did not respond. Genetic analysis revealed the mutation c.1481T>G (p. L494W) in exon 10 of the c-Mpl gene, and the diagnosis of CAMT was confirmed. The patient underwent allo-HSCT from a healthy sibling donor. Alloimmunization reactions and immune disorders were present due to long-term treatment with immunosuppressive medications and repeated blood and platelet transfusions. Hence, the regeneration of T-lymphocytes after allo-HSCT was evaluated., Conclusion: Successful treatment of acute GvHD prevented advancing the condition to chronic GvHD, and this was accompanied by delayed T-cell reconstitution through an increase in Treg:Tcons ratio., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Published
2024
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