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Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Nature medicine, 2021-09, Vol.27 (9), p.1646-1654

2021

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Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

Haematologica (Roma), 2015-06, Vol.100 (6), p.e216-e219

2015

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Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function

Haematologica (Roma), 2019-03, Vol.104 (3), p.609-621

2019

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Hematologically important mutations: Leukocyte adhesion deficiency (first update)

Blood cells, molecules, & diseases, 2012-01, Vol.48 (1), p.53-61

2012

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Clinical Features and HSCT Outcome for SCID in Turkey

Journal of clinical immunology, 2019-04, Vol.39 (3), p.316-323

2019

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Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Journal of allergy and clinical immunology, 2015-07, Vol.136 (1), p.140-150.e7

2015

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Newborn screening for SCID: the very first prospective pilot study from Türkiye

Frontiers in immunology, 2024-10, Vol.15

2024

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A Patient Presenting with Chronic Mucocutaneous Candidiasis: A Novel IL12RB1 Mutation

Astım allerji immünoloji, 2022-12, Vol.20 (3), p.194-196

2022

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Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

Journal of clinical immunology, 2012-08, Vol.32 (4), p.698-708

2012

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Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

Cell, 2001-04, Vol.105 (2), p.177-186

2001

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Elevated Interleukin‐17A expression in amlodipine‐induced gingival overgrowth

Journal of periodontal research, 2020-10, Vol.55 (5), p.613-621

2020

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Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study

Journal of clinical immunology, 2020-04, Vol.40 (3), p.494-502

2020

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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

The Journal of clinical investigation, 2003-08, Vol.112 (3), p.450-456

2003

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Mutation in BTK Gene Causing an Atypical Presentation of XLA

Astım allerji immünoloji, 2022-12, Vol.20 (3), p.197-201

2022

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Thirty years of primary immunodeficiencies in Turkey

Annals of the New York Academy of Sciences, 2011-11, Vol.1238 (1), p.15-23

2011

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Evaluation of peripheral lymphocyte subsets in acne vulgaris patients before and after systemic isotretinoin treatment

Indian journal of pharmacology, 2022-09, Vol.54 (5), p.338-344

2022

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Cutaneous Findings in Inborn Errors of Immunity: An Immunologist's Perspective

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2023-10, Vol.11 (10), p.3030-3039

2023

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CVID Associated with Systemic Amyloidosis

Case reports in immunology, 2015-01, Vol.2015 (2015), p.1-4

2015

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First allogeneic hematopoietic stem cell transplantation in RASGRP1 deficiency: long-term follow-up

Bone marrow transplantation (Basingstoke), 2022-07, Vol.57 (7), p.1210-1212

2022

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Evaluation of periodontal status and cytokine/chemokine profile of GCF in patients with severe congenital neutropenia

Odontology, 2021-04, Vol.109 (2), p.474-482

2021

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Nutritional status of children with primary immunodeficiency: A single center experience

Pediatric investigation, 2022-01, Vol.64 (1), p.e14996-n/a

2022

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Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients

European journal of medical genetics, 2022-03, Vol.65 (3), p.104428-104428, Article 104428

2022

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Long Term Follow-Up of the Patients with Severe Combined Immunodeficiency After Hematopoietic Stem Cell Transplantation: A Single-Center Study

Immunological investigations, 2022-05, Vol.51 (4), p.739-747

2022

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Childhood-onset Takayasu arteritis and immunodeficiency: case-based review

Clinical rheumatology, 2022-09, Vol.41 (9), p.2883-2892

2022

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Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single‐centre study

Scandinavian journal of immunology, 2021-10, Vol.94 (4), p.e13084-n/a

2021

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Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function

Hematologically important mutations: Leukocyte adhesion deficiency (first update)

Clinical Features and HSCT Outcome for SCID in Turkey

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Newborn screening for SCID: the very first prospective pilot study from Türkiye

A Patient Presenting with Chronic Mucocutaneous Candidiasis: A Novel IL12RB1 Mutation

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

Elevated Interleukin‐17A expression in amlodipine‐induced gingival overgrowth

Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Mutation in BTK Gene Causing an Atypical Presentation of XLA

Thirty years of primary immunodeficiencies in Turkey

Evaluation of peripheral lymphocyte subsets in acne vulgaris patients before and after systemic isotretinoin treatment

Cutaneous Findings in Inborn Errors of Immunity: An Immunologist's Perspective

CVID Associated with Systemic Amyloidosis

First allogeneic hematopoietic stem cell transplantation in RASGRP1 deficiency: long-term follow-up

Evaluation of periodontal status and cytokine/chemokine profile of GCF in patients with severe congenital neutropenia

Nutritional status of children with primary immunodeficiency: A single center experience

Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients

Long Term Follow-Up of the Patients with Severe Combined Immunodeficiency After Hematopoietic Stem Cell Transplantation: A Single-Center Study

Childhood-onset Takayasu arteritis and immunodeficiency: case-based review

Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single‐centre study

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