Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience

Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry

(2022) Mahnaz Jamee et al.   CLINICAL IMMUNOLOGY

A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia

(2021) Ezgi Topyildiz et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

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) Neslihan Edeer Karaca et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID)

(2021) Atil Bisgin et al.   Scientific Reports

Primary antibody deficiencies in Turkey: molecular and clinical aspects

(2021) Sinem Firtina et al.   IMMUNOLOGIC RESEARCH

Current genetic landscape in common variable immune deficiency

(2020) Hassan Abolhassani et al.   BLOOD

Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant

(2020) Necil Kutukculer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical manifestations, Diagnosis, Classification and Management

(2019) R Yazdani et al.   JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY

A Novel TTC37 Mutation Causing Remarkable Trichohepatoenteric Syndrome Clinical Findings Such as Pyoderma Gangrenosum and Immunodeficiency without Severe Diarrhea

(2019) NE Karaca et al.   JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY

Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing

(2018) Ran Li et al.   Biomed Research International

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches

(2016) Jin Li et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency

(2016) Gertjan J. Driessen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

(2016) Delfien J A Bogaert et al.   JOURNAL OF MEDICAL GENETICS

NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency

(2016) Chuan Shi et al.   MEDICINE

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

(2016) Patrick Maffucci et al.   Frontiers in Immunology

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Three Different Classifications, B Lymphocyte Subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) Gene Mutations, CTLA-4 and ICOS Gene Polymorphisms in Turkish Patients with Common Variable Immunodeficiency

(2012) Necil Kutukculer et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Transmembrane activator and calcium-modulator and cyclophilin ligand interactor mutations in common variable immunodeficiency

(2008) John J Lee et al.   Current Opinion in Allergy and Clinical Immunology