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Article ; Online: Primary Immunodeficiency Diseases in COVID-19 Pandemic: A Predisposing or Protective Factor?

Babaha, Fateme / Rezaei, Nima

The American journal of the medical sciences

2020 Volume 360, Issue 6, Page(s) 740–741

MeSH term(s)	COVID-19/complications ; COVID-19/epidemiology ; Causality ; Humans ; Primary Immunodeficiency Diseases/complications ; Primary Immunodeficiency Diseases/epidemiology ; Risk Factors ; SARS-CoV-2
Keywords	covid19
Language	English
Publishing date	2020-07-29
Publishing country	United States
Document type	Letter
ZDB-ID	82078-7
ISSN	1538-2990 ; 0002-9629
ISSN (online)	1538-2990
ISSN	0002-9629
DOI	10.1016/j.amjms.2020.07.027
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Article: Primary Immunodeficiency Diseases in COVID-19 Pandemic: A Predisposing or Protective Factor?

Babaha, Fateme / Rezaei, Nima

Am. j. med. sci

Keywords	covid19
Publisher	WHO
Document type	Article
Note	WHO #Covidence: #684201
Database	COVID19

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Article ; Online: Primary Immunodeficiency Diseases in COVID-19 Pandemic

Babaha, Fateme / Rezaei, Nima

The American Journal of the Medical Sciences ; ISSN 0002-9629

A Predisposing or Protective Factor?

2020

Keywords	General Medicine ; covid19
Language	English
Publisher	Elsevier BV
Publishing country	us
Document type	Article ; Online
DOI	10.1016/j.amjms.2020.07.027
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Article ; Online: A new case of congenital ficolin-3 deficiency with primary immunodeficiency.

Babaha, Fateme / Abolhassani, Hassan / Hamidi Esfahani, Zahra / Yazdani, Reza / Aghamohammadi, Asghar

Expert review of clinical immunology

2020 Volume 16, Issue 7, Page(s) 733–738

Abstract: Objectives: Human Ficolin-3 (: Methods: In this study, we report a 5-year-old boy with a biallelic mutation in the : Results: Our case is the first national and the eighth case worldwide with a confirmed frameshift mutation associated with Ficolin- ...

Abstract	Objectives: Human Ficolin-3 ( Methods: In this study, we report a 5-year-old boy with a biallelic mutation in the Results: Our case is the first national and the eighth case worldwide with a confirmed frameshift mutation associated with Ficolin-3 deficiency. He manifested refractory seizures since early infancy, meningitis, pyelonephritis and was diagnosed with severe primary immunodeficiency. Conclusion: Our case and literature review indicate Ficolin-3 deficiency should be considered in early-onset, premature neonate with a bacterial infection, neurological manifestation and systemic lupus erythematosus like presentations.
MeSH term(s)	Child, Preschool ; Complement Pathway, Mannose-Binding Lectin/genetics ; Diagnosis, Differential ; Frameshift Mutation/genetics ; Humans ; Lectins/genetics ; Lupus Erythematosus, Systemic/diagnosis ; Male ; Meningitis ; Primary Immunodeficiency Diseases/diagnosis ; Pyelonephritis ; Seizures ; Whole Exome Sequencing
Chemical Substances	FCN3 protein, human ; Lectins
Language	English
Publishing date	2020-08-11
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2274260-8
ISSN	1744-8409 ; 1744-666X
ISSN (online)	1744-8409
ISSN	1744-666X
DOI	10.1080/1744666X.2020.1792779
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Article ; Online: Evaluation of MicroRNA-125b-5p and Transcription Factors BLIMP1 and IRF4 Expression in Unsolved Common Variable Immunodeficiency Patients.

Hamidi Esfahani, Zahra / Yazdani, Reza / Shahkarami, Sepideh / Babaha, Fateme / Abolhassani, Hassan / Sadr, Maryam / Pourfathollah, Ali Akbar / Aghamohammadi, Asghar

Iranian journal of allergy, asthma, and immunology

2021 Volume 20, Issue 6, Page(s) 700–710

Abstract: Common variable immunodeficiency (CVID) is the most prevalent form of symptomatic primary humoral immunodeficiencies characterized by failure in the final differentiation of B lymphocytes. The majority of CVID cases have no identified genetic defect, and ...

Abstract	Common variable immunodeficiency (CVID) is the most prevalent form of symptomatic primary humoral immunodeficiencies characterized by failure in the final differentiation of B lymphocytes. The majority of CVID cases have no identified genetic defect, and epigenetic alteration could be involved in the pathogenesis of CVID. Hence, we aimed to evaluate the expression of hsa-miR-125b-5p -and, B lymphocyte-induced maturation protein-1(BLIMP-1) and interferon regulatory protein-4 (IRF-4) in a group of CVID patients with no definitive genetic diagnosis in comparison with healthy individuals. Ten CVID patients (all known genes excluded) and 10 age and sex-matched healthy controls participated in the study. B lymphocytes were isolated and expression of miR-125b-5p, IRF4, and BLIMP1 were evaluated by real-time polymerase chain reaction (RT-PCR). Moreover, B cell subsets were analyzed by flow cytometry. The results showed that the relative expression of miR-125b-5p in CVID patients was increased while it was decreased for the BLIMP1 and IRF4 transcription factors compared with the healthy controls. Although a reduction was observed in switched and non-switched memory B cells among all high-miR patients, these subsets were decreased in patients with normal miR expression (71.0% and 85.0%, respectively). Our results suggest that overexpression of miR-125b-5p affects the terminal differentiation of B cells in a selected group of CVID patients by downregulating the BLIMP-1 gene and more intensively for the IRF-4 gene expressions.
MeSH term(s)	Adult ; Biomarkers/metabolism ; Case-Control Studies ; Common Variable Immunodeficiency/genetics ; Down-Regulation ; Epigenesis, Genetic ; Female ; Gene Expression Regulation ; Humans ; Interferon Regulatory Factors/genetics ; Interferon Regulatory Factors/metabolism ; Male ; MicroRNAs/metabolism ; Positive Regulatory Domain I-Binding Factor 1/genetics ; Positive Regulatory Domain I-Binding Factor 1/metabolism ; Up-Regulation
Chemical Substances	Biomarkers ; Interferon Regulatory Factors ; MIRN125 microRNA, human ; MicroRNAs ; interferon regulatory factor-4 ; PRDM1 protein, human (138415-26-6) ; Positive Regulatory Domain I-Binding Factor 1 (EC 2.1.1.-)
Language	English
Publishing date	2021-12-08
Publishing country	Iran
Document type	Journal Article
ZDB-ID	2488724-9
ISSN	1735-5249 ; 1735-1502
ISSN (online)	1735-5249
ISSN	1735-1502
DOI	10.18502/ijaai.v20i6.8021
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Article ; Online: Evaluation of miR-210 expression in common variable immunodeficiency: patients with unsolved genetic defect.

Babaha, Fateme / Yazdani, Reza / Shahkarami, Sepideh / Esfahani, Zahra Hamidi / Abolhahassani, Hassan / Sadr, Maryam / Hosseini, Ahmad Zavaran / Aghamohammadi, Asghar

Allergologia et immunopathologia

2021 Volume 49, Issue 2, Page(s) 84–93

Abstract: Background: Common variable immunodeficiency (CVID) is one of the most prevalent forms of primary immunodeficiency diseases (PID). CVID is characterized by failure in the final differentiation of B lymphocytes and impaired antibody production but the ... ...

Abstract	Background: Common variable immunodeficiency (CVID) is one of the most prevalent forms of primary immunodeficiency diseases (PID). CVID is characterized by failure in the final differentiation of B lymphocytes and impaired antibody production but the pathogenesis is not known in the majority of patients. We postulated that the expression pattern of miRNAs in unsolved CVID patients might be the underlying epigenetic cause of the disease. Therefore, we aimed to assess the expression of hsa-miR-210-5p and FOXP3 transcription factor in CVID cases in comparison with healthy individuals. Methods: Eleven CVID cases with no genetic defects (all PID known genes excluded) and 10 sex and age-matched healthy individuals were enrolled in the study. T lymphocytes were purified from PBMC, and expression levels of miR-210-5p and FOXP3 mRNA were evaluated by real-time PCR. Results: We demonstrated that miR-210 expression in patients was significantly higher than the control group (P = 0.03). FOXP3 expression was slightly lower in patients compared with healthy controls (P = 0.86). There was a negative correlation between miR and gene expression (r: -0.11, P = 0.73). Among various clinical complications, autoimmunity showed a considerable rate in high-miR patients (P = 0.12, 42.8%), while autoimmunity was not observed in normal miR-210 patients. Conclusions: Our results suggest a role for miR-210 in the pathogenesis of autoimmunity in CVID patients. Further studies would better elucidate epigenetic roles in CVID patients with no genetic defects.
MeSH term(s)	Adolescent ; Adult ; Case-Control Studies ; Child ; Common Variable Immunodeficiency/diagnosis ; Common Variable Immunodeficiency/genetics ; Common Variable Immunodeficiency/immunology ; Epigenesis, Genetic/immunology ; Female ; Follow-Up Studies ; Forkhead Transcription Factors/genetics ; Gene Expression Profiling ; Healthy Volunteers ; Humans ; Male ; MicroRNAs/metabolism ; Real-Time Polymerase Chain Reaction ; Up-Regulation/immunology ; Young Adult
Chemical Substances	FOXP3 protein, human ; Forkhead Transcription Factors ; MIRN210 microRNA, human ; MicroRNAs
Language	English
Publishing date	2021-03-01
Publishing country	Singapore
Document type	Journal Article ; Observational Study
ZDB-ID	193144-1
ISSN	1578-1267 ; 0301-0546
ISSN (online)	1578-1267
ISSN	0301-0546
DOI	10.15586/aei.v49i2.39
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Article ; Online: PIK3R1 Mutation Associated with Hyper IgM (APDS2 Syndrome): A Case Report and Review of the Literature.

Yazdani, Reza / Hamidi, Zahra / Babaha, Fateme / Azizi, Gholamreza / Fekrvand, Saba / Abolhassani, Hassan / Aghamohammadi, Asghar

Endocrine, metabolic & immune disorders drug targets

2019 Volume 19, Issue 7, Page(s) 941–958

Abstract: Background and objective: APDS [Activated phosphoinositide 3-kinase (PI3K) δ Syndrome] is a newly found special form of primary immunodeficiency caused by mutations in genes encoding PI3Kδ subunits and over-activation of the PI3K signaling pathway. Gain- ...

Abstract	Background and objective: APDS [Activated phosphoinositide 3-kinase (PI3K) δ Syndrome] is a newly found special form of primary immunodeficiency caused by mutations in genes encoding PI3Kδ subunits and over-activation of the PI3K signaling pathway. Gain-of-function and loss-of-function mutations in PIK3CD (encoding P110δ) and PIK3R1 (encoding p85α, p55α and p50α) lead to APDS1 and APDS2, respectively. The subsequent irregular PI3K downstream signaling cascade is associated with abnormalities in B cells and T cells and the consequent heterogeneous clinical manifestations including respiratory tract infections, autoimmunity, lymphoproliferation and not to mention primary antibody deficiency. In this study, we report a 12-year-old girl with a mutation in the PIK3R1 gene who manifested immunological phenotypes resembling hyper IgM syndrome along with a review of the literature of the previously reported patients. Methods: Whole exome sequencing was performed to detect the underlying genetic mutation in this patient. Results: A de novo heterozygous splice site mutation in the hot spot of the PIK3R1 gene within the intron 10 was found (c.1425+1G>A). Conclusion: Further investigations are required for evaluation of the underlying genetic defects and the possible associations between genetic underpinning and heterogeneous severity and features of the disease.
MeSH term(s)	Child ; Class I Phosphatidylinositol 3-Kinases/genetics ; Class Ia Phosphatidylinositol 3-Kinase/genetics ; Fatal Outcome ; Female ; Humans ; Hyper-IgM Immunodeficiency Syndrome/diagnosis ; Hyper-IgM Immunodeficiency Syndrome/genetics ; Mutation/genetics ; Primary Immunodeficiency Diseases/diagnosis ; Primary Immunodeficiency Diseases/genetics
Chemical Substances	PIK3R1 protein, human (EC 2.7.1.-) ; Class I Phosphatidylinositol 3-Kinases (EC 2.7.1.137) ; Class Ia Phosphatidylinositol 3-Kinase (EC 2.7.1.137)
Language	English
Publishing date	2019-02-22
Publishing country	United Arab Emirates
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2228325-0
ISSN	2212-3873 ; 1871-5303
ISSN (online)	2212-3873
ISSN	1871-5303
DOI	10.2174/1871530319666190225114739
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Article ; Online: Evaluation of effective factors on IL-10 signaling in B cells in patients with selective IgA deficiency

Bagheri, Yasser / Saeidi, Mohsen / Yazdani, Reza / Babaha, Fateme / Falak, Reza / Azizi, Gholamreza / Taherian, Marjan / Salami, Fereshteh / Yazdani, Yaghoob / Sadani, Somayeh / Hosseini, Ali / Motallebnezhad, Morteza / Abolhassani, Hassan / Shekarabi, Mehdi / Aghamohammadi, Asghar

European cytokine network

2022 Volume 33, Issue 1, Page(s) 1–12

Abstract: Background: Selective IgA deficiency is the most prevalent form of primary immunodeficiencies. The pathogenesis of the disease is still unknown. Several studies have suggested a defect in B cell responses to IL-10; however, the main reason for this ... ...

Title translation	Evaluation of effective factors on IL-10 signaling in B cells in patients with selective IgA deficiency.
Abstract	Background: Selective IgA deficiency is the most prevalent form of primary immunodeficiencies. The pathogenesis of the disease is still unknown. Several studies have suggested a defect in B cell responses to IL-10; however, the main reason for this defect has not been reported. Elucidating IL-10 signaling defects and their correlation with clinical manifestations could be helpful for better understanding and treatment of the disease. Methods: In this study, 15 SIgAD patients and 15 age- and sex-matched healthy controls were included. Surface expression of transforming growth factor β receptor II (TGF-β RII), IL-10R and IgA was assessed by flow cytometry in human purified B cells before and after stimulation by IL-10. Protein expression of STAT3, p-STAT3 and SOCS3 was measured by Western blotting analysis. TGF-β and IgA secretion was evaluated by ELISA. Finally, the measurement of B cell apoptosis was performed by flow cytometry. Results: The TGF-βRII expression level was decreased after stimulation with IL-10 in patients compared with controls. Notably, the TGF-β level were higher after stimulation with mCD40L and IL-10 in the control group as compared to stimulation with mCD40L alone. The IgA+ B cell percentage and IgA secretion levels were significantly increased in controls as compared with SIgAD patients. The relative concentration of the total STAT3 was decreased as compared with controls. Conclusion: The defect in IgA production in SIgAD patients could be due to inadequate B cell responses to IL-10 stimulation that probably originate from defective regulation of IL-10-mediated TGF-b ’symbol’ production TGF-β response by IL-10. Furthermore, it is suggested that the absence of STAT3 protein baseline expression could impair cytokine-mediated signaling such as thatinduced by IL-!0 and IL-21.
MeSH term(s)	B-Lymphocytes ; Humans ; IgA Deficiency ; Immunoglobulin A ; Interleukin-10 ; Transforming Growth Factor beta
Chemical Substances	Immunoglobulin A ; Transforming Growth Factor beta ; Interleukin-10 (130068-27-8)
Language	English
Publishing date	2022-09-14
Publishing country	France
Document type	Journal Article
ZDB-ID	1118857-1
ISSN	1952-4005 ; 1148-5493
ISSN (online)	1952-4005
ISSN	1148-5493
DOI	10.1684/ecn.2021.0464
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Article ; Online: Evaluation of MicroRNA-125b-5p and Transcription Factors BLIMP1 and IRF4 Expression in Unsolved Common Variable Immunodeficiency Patients

Zahra Hamidi Esfahani / Reza Yazdani / Sepideh Shahkarami / Fateme Babaha / Hassan Abolhassani / Maryam Sadr / Ali Akbar Pourfathollah / Asghar Aghamohammadi

Iranian Journal of Allergy, Asthma and Immunology, Vol 20, Iss

2021 Volume 6

Abstract	Common variable immunodeficiency (CVID) is the most prevalent form of symptomatic primary humoral immunodeficiencies characterized by failure in the final differentiation of B lymphocytes. The majority of CVID cases have no identified genetic defect, and epigenetic alteration could be involved in the pathogenesis of CVID. Hence, we aimed to evaluate the expression of hsa-miR-125b-5p -and, B lymphocyte-induced maturation protein-1(BLIMP-1) and interferon regulatory protein-4 (IRF-4) in a group of CVID patients with no definitive genetic diagnosis in comparison with healthy individuals. Ten CVID patients (all known genes excluded) and 10 age and sex-matched healthy controls participated in the study. B lymphocytes were isolated and expression of miR-125b-5p, IRF4, and BLIMP1 were evaluated by real-time polymerase chain reaction (RT-PCR). Moreover, B cell subsets were analyzed by flow cytometry. The results showed that the relative expression of miR-125b-5p in CVID patients was increased while it was decreased for the BLIMP1 and IRF4 transcription factors compared with the healthy controls. Although a reduction was observed in switched and non-switched memory B cells among all high-miR patients, these subsets were decreased in patients with normal miR expression (71.0% and 85.0%, respectively). Our results suggest that overexpression of miR-125b-5p affects the terminal differentiation of B cells in a selected group of CVID patients by downregulating the BLIMP-1 gene and more intensively for the IRF-4 gene expressions.
Keywords	Common Variable Immunodeficiency ; Epigenesis ; MicroRNAs ; Primary immunodeficiency diseases ; Medicine ; R
Subject code	610 ; 616
Language	English
Publishing date	2021-12-01T00:00:00Z
Publisher	Tehran University of Medical Sciences
Document type	Article ; Online
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Article ; Online: IL-10 induces TGF-β secretion, TGF-β receptor II upregulation, and IgA secretion in B cells.

Bagheri, Yasser / Babaha, Fateme / Falak, Reza / Yazdani, Reza / Azizi, Gholamreza / Sadri, Maryam / Abolhassani, Hassan / Shekarabi, Mehdi / Aghamohammadi, Asghar

European cytokine network

2020 Volume 30, Issue 3, Page(s) 107–113

Abstract: Interleukin-10 (IL-10) is a pleiotropic cytokine, which has both regulatory and stimulatory effects on different immune cell types. Different studies have reported the importance of IL-10 and Transforming growth factor-beta (TGF-β) in the regulation of B ...

Abstract	Interleukin-10 (IL-10) is a pleiotropic cytokine, which has both regulatory and stimulatory effects on different immune cell types. Different studies have reported the importance of IL-10 and Transforming growth factor-beta (TGF-β) in the regulation of B cell class switching the production of immunoglobulin A (IgA); however, the underlying mechanisms remain to be fully elucidated. The objective of this study was to investigate the TGF-β response during B stimulation of human B cells by IL-10. Pan B cells of healthy donors were negatively purified by a magnetic cell separation technique. B cells were cultured with multimeric CD40 ligand (mCD40L) and IL-10 for two and seven days. After harvesting in specific days, TGF-β receptor II and surface IgA expression was determined by flow cytometry, while IgA and TGF-β secretion was assessed by enzyme-linked immunosorbent assay. B cells endogenously expressed TGF-β receptor II and after 48 hours cultivation with mCD40L or mCD40L plus IL-10, both the expression of this receptor and the production of TGF-β were significantly increased. Notably, TGF-β levels following stimulation with mCD40L and IL-10 were higher than those produced by B cells stimulated with mCD40L alone. Furthermore, at day 7 and following IL-10 stimulation, there was a significant rise in the amount of IgA secretion by class-switched plasma cells, which was higher than stimulation with mCD40L alone. Our findings suggest that IL-10 can modulate TGF-β production and TGF-β receptor expression in mCD40-activated human B lymphocytes.
MeSH term(s)	B-Lymphocytes/immunology ; CD40 Antigens/immunology ; CD40 Ligand/immunology ; Humans ; Immunoglobulin A/immunology ; Immunoglobulin Class Switching/immunology ; Interleukin-10/immunology ; Lymphocyte Activation/immunology ; Receptors, Transforming Growth Factor beta/immunology ; Transforming Growth Factor beta/immunology ; Up-Regulation/immunology
Chemical Substances	CD40 Antigens ; IL10 protein, human ; Immunoglobulin A ; Receptors, Transforming Growth Factor beta ; Transforming Growth Factor beta ; Interleukin-10 (130068-27-8) ; CD40 Ligand (147205-72-9)
Language	English
Publishing date	2020-01-20
Publishing country	France
Document type	Journal Article
ZDB-ID	1118857-1
ISSN	1952-4005 ; 1148-5493
ISSN (online)	1952-4005
ISSN	1148-5493
DOI	10.1684/ecn.2019.0434
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