Güzide AKSU

Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı

Research areas: Health Sciences, Medicine, Internal Medicine Sciences, Child Health and Diseases, Pediatric Immunology and Allergy, Other, Medical Genetics, Natural Sciences, Life Sciences, Fundamental Medical Sciences

Publications

Unclassified Inborn Errors of Immunity Patients without any Pathogenic Variant in Targeted Next-Generation Sequencing: Long-Term Follow-up and Whole Exome Sequencing Results (2026)
Clinical features and the impact of MEFV Variants in pediatric non-infectious uveitis: a retrospective single-center study (2026)
Comparison of the Clinical Expression of Patients with Enthesitis/Spondylitis-Related Juvenile Idiopathic Arthritis (E/SpRJIA) from Türkiye and India (2026)
Oral Manifestations in Children with Celiac Disease – Part II: Salivary Changes, Immunological Markers, and their Correlation with Oral Health Status (2025)
Epidemiology and management of malignancies in patients with inborn errors of immunity-An ESID registry study of 19,959 patients (2025)
Expansion of Myeloid-Derived Suppressor Cells and Lymphocyte Apoptosis Beyond B-Cell Deficiency in X-Linked Agammaglobulinemia (2025)
Should We Adopt Increased Dilutions for Indirect Immunofluorescence in Pediatric Anti-Centromere Antibody Testing? Insights from a Three-Year Retrospective Study † (2025)
Exploring the role of NOD2 variants in pediatric undifferentiated recurrent fever: a clinical and functional perspective (2025)
Machine learning-assisted diagnosis classification of primary immune dysregulation using IDDA2.1 phenotype profiling (2025)
Predicting homozygous M694V genotype in paediatric FMF: multicentre analysis and scoring system proposal. (2025)
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry (2025)
Evaluation of Serum Complement Components in Pediatric IgA Vasculitis: A Case-Control Study (2025)
Expansion of Myeloid‐Derived Suppressor Cells and Lymphocyte Apoptosis Beyond B‐Cell Deficiency in X‐Linked Agammaglobulinemia (2025)
Exploring the role of NOD2 variants in pediatric undifferentiated recurrent fever: a clinical and functional perspective (2025)
Monocyte plasticity and HLA-DR expression in patients with X-linked agammaglobulinemia (2025)
Predicting homozygous M694V genotype in paediatric FMF: multicentre analysis and scoring system proposal (2025)
Analysis of IL-1β, TGF-β, IL-5, ACE, PTPN22 gene polymorphisms, and gene expression levels in Turkish children with IgA vasculitis (2024)
Transient hypogammaglobulinemia of infancy and unclassified syndromic immunodeficiencies are highly common in oesophageal atresia patients (2024)
Clinical efficacy of SARS-CoV-2 Omicron-neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency (2024)
Investigation of Phagocyte Functions in Pseudomonas-Colonized Cystic Fibrosis Patients (2024)
Immune Responses to Respiratory Infections (2024)
Facilitated Subcutaneous Immunoglobulin Treatment Increases the Quality of Life and Decreases the Number of Infections and Hospitalizations in Children with Primary Immunodeficiencies (2024)
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants (2024)
Current treatment in macrophage activation syndrome worldwide: a systematic literature review to inform the METAPHOR project (2024)
Investigation of Phagocyte Functions in Pseudomonas-Colonized Cystic Fibrosis Patients (2024)
Transient hypogammaglobulinemia of infancy: Clinical and immunologic features of 385 cases. (2023)
İnflamatuvar Bağırsak Hastalığı Olgusunda Komplike Serebral Ven Trombozu Tedavisi ve Yönetimi (2023)
Yaygın Değişken İmmün Yetmezlikte Tanımlanan Genetik Defektler (2023)
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency (2023)
Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature (2023)
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child (2023)
Alterations in B and NK cells highly correlate with disease severity in children with COVID-19 (2023)
Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus: A multicenter study (2023)
Cardiac Assessment in Children with MIS-C: Late Magnetic Resonance Imaging Features (2023)
Multidisipliner yaklaşımlarla immunoglobulin tedavisi rehberi 2023 (2023)
Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience (2023)
An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission (2023)
Analysis of IL-1β, TGF-β, IL-5, ACE, PTPN22 gene polymorphisms, and gene expression levels in Turkish children with IgA vasculitis (2023)
Autoimmune Cytopenias Are Highly Associated with Inborn Errors of Immunity and They May Be the Initial Presentations in Cases without Severe Infections (2023)
Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus: A multicenter study (2023)
Current Genetic Defects in Common Variable Immune Deficiency Patients on the Geography Between Europe and Asia (2023)
Analysis of IL-1β, TGF- Β, Il-5, ACE and PTPN22 Gene Polymorphisms and GEN Expression Levels in Turkish Chlidren with IgA Vasculitis (2023)
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child (2023)
Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience (2023)
Analysis of IL-1β, TGF-β, IL-5, ACE, PTPN22 gene polymorphisms, and gene expression levels in Turkish children with IgA vasculitis (2023)
COMBINED IMMUNODEFICIENCY DUE TO JAK3 MUTATION ASSOCIATED WITH REFRACTORY CMV INFECTION AND BCG-OSİ (2022)
Psödomanas Aeruginosa Kolonize Kistik Fibrozisli Hastaların Nötrofil Fonksiyonlarının Değerlendirilmesi (2022)
A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years (2022)
A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years (2022)
Kombine İmmün Yetmezlikler (2022)
Immunological changes during desensitization with cow’s milk: how differ from natural tolerance or nonallergic state? (2022)
Early Immunomodulatory Effects of Different Natural Surfactant Preparations in Preterms With Respiratory Distress (2022)
A Remarkable Case of Autoimmune Polyendocrinopathy, Candidiasis and Ectodermal Dystrophy Syndrome (APECED) misdiagnosed as Juvenile Idiopathic Arthritis on admission (2022)
INVESTIGATION OF PHAGOCYTE FUNCTIONS IN PSEUDOMONAS-COLONIZED CYSTIC FIBROSIS PATIENTS (2022)
1051. Cardiac Assessment in Children with MIS-C: Late Magnetic Resonance Imaging Features (2022)
Cardiac Assessment in Children with MIS-C: Late Magnetic Resonance Imaging Features (2022)
Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants (2022)
X-linked agammaglobulinemia: investigation of clinical and laboratory findings, novel gene mutations and prevention of infective complications in long-term follow-up (2021)
X-linked agammaglobulinemia: investigation of clinical and laboratory findings, novel gene mutations and prevention of infective complications in long-term follow-up (vol 10, pg 37, 2021) (2021)
Combined immunodeficiency with marginal zone lymphoma due to a novel homozygous mutation inIL-21Rgene and successful treatment with hematopoietic stem cell transplantation (2021)
Neuropsychiatric involvement in childhood systemic lupus erythematosus: a multicenter study in Turkey (2021)
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference (2021)
Consensus Middle East and North Africa Registry on Inborn Errors of Immunity (2021)
X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up (2021)
X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up. (2021)
Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature (2021)
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2 ): striking clinical phenotypic overlap and difference (2021)
A Novel Homozygous TRNT1 Mutation in a Child with an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia (2021)
Combined immunodeficiency with marginal zone lymphoma due to a novel homozygous mutation in IL-21R gene and successful treatment with hematopoietic stem cell transplantation (2021)
X-linked agammaglobulinemia: investigation of clinical and laboratory findings, novel gene mutations and prevention of infective complications in long-term follow-up (2021)
X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up (2021)
Common variable immunodeficiency: familial inheritance and autoimmune manifestations in two siblings (2021)
Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature (2021)
Efficiency of modulated and dose rate altered flattening filter free beams in high dose per fraction radiotherapy applications on the survival of prostate cancer cell lines (2021)
Efficiency of modulated and dose rate altered flattening filter free beams in high dose per fraction radiotherapy applications on the survival of prostate cancer cell lines (2021)
Erratum: X-linked agammaglobulinemia: investigation of clinical and laboratory findings, novel gene mutations and prevention of infective complications in long-term follow-up. (2021)
A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia (2021)
Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature (2021)
Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant (2021)
22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management (2021)
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference (2021)
Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation (Journal of Clinical Immunology, (2020), 40, 4, (643-645), 10.1007/s10875-020-00770-1) (2020)
A Remarkable Coexistence of Systemic Capillary Leak Syndrome and Diabetes in an 11-Year-Old Boy: A Case Report and Review of the Literature (2020)
Autoantibody Positivity in Children with Chronic Diarrhea (2020)
The evaluation of malignancies in Turkish primary immunodeficiency patients a multicenter study (2020)
Primer İmmün Yetmezliklerde İmmünoglobulin Replasman Tedavisi: Güncel Durum Raporu 2019 (2020)
Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant (2020)
Autoantibody Positivity in Children with Chronic Diarrhea (2020)
ÇOCUK ROMATOLOJİ HASTALARINDA HASTANE MALNÜTRİSYONU VE MALNÜTRİSYON SKORLAMALARI (2020)
Efficacy and quality of life assessment in the use of subcutaneous immunoglobulin treatment in children with primary immunodeficiency (2020)
A Remarkable Coexistence of Systemic Capillary Leak Syndrome and Diabetes in an 11-Year-Old Boy: A Case Report and Review of the Literature (2020)
The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study (2020)
The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation (2020)
Genetically defined mutations in primary immunodeficiencies by new generation sequencing targeted gene method: results of 200 patients from one center in Western Turkey (2019)
Kronik İshal Yakınması İle Başvuran Olgularda Otoantikor Pozitifliği (2019)
DOCK8 EKSİKLİĞİ İLİŞKİLİ PEDİATRİK İMMÜN YETMEZLİKLİ HASTALARDA HEMATOPOİETİK KÖK HÜCRE NAKLİ (2019)
Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages (2019)
Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency (2019)
A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe Diarrhea (2019)
Antı-β2 Glycoprotein I Antibodies in Children with Rheumatologic Disorders (2019)