Associated Papers
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.
Pekpak Sahinoglu E et al.
Journal of Pediatric Hematology/oncology, 2024
Historical Cohort of Severe Congenital Neutropenia in Iran: Clinical Course, Laboratory Evaluation, Treatment, and Survival.
Spoor J et al.
Journal of Pediatric Hematology/oncology, 2023
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Linder MI et al.
Blood, 2023
36223592 (PubMed )
Supplement: BLOOD_BLD-2022-016783-mmc1.pdf
The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects.
Arab F et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2022
Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death
Olcay L et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2018
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Bisgin A et al.
Biomed Research International, 2018
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
Roques G et al.
Pediatric Blood & Cancer, 2014
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
Germeshausen M et al.
Blood, 2008
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