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Current genetic landscape in common variable immune deficiency

Blood, 2020-02, Vol.135 (9), p.656-667

2020

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Ataxia‐telangiectasia: A review of clinical features and molecular pathology

Pediatric allergy and immunology, 2019-05, Vol.30 (3), p.277-288

2019

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Specific Immune Response and Cytokine Production in CD70 Deficiency

Frontiers in pediatrics, 2021-04, Vol.9, p.615724-615724

Abolhassani, Hassan

2021

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Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

Genetics in medicine, 2019-01, Vol.21 (1), p.243-251

2019

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A hypomorphic recombination-activating gene 1 ( RAG1 ) mutation resulting in a phenotype resembling common variable immunodeficiency

Journal of allergy and clinical immunology, 2014-12, Vol.134 (6), p.1375-1380

2014

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Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review

Clinical reviews in allergy & immunology, 2020-12, Vol.59 (3), p.323-333

2020

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B- and T-Cell Subset Abnormalities in Monogenic Common Variable Immunodeficiency

Frontiers in immunology, 2022-06, Vol.13, p.912826-912826

2022

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Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions

Journal of clinical immunology, 2016-05, Vol.36 (Suppl 1), p.68-75

2016

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Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome

Journal of clinical immunology, 2022-04, Vol.42 (3), p.471-483

2022

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Hallmarks of Cancers: Primary Antibody Deficiency Versus Other Inborn Errors of Immunity

Frontiers in immunology, 2021-08, Vol.12, p.720025-720025

2021

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From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature

BMC pediatrics, 2024-02, Vol.24 (1), p.116-116

2024

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Primary Immunodeficiency Diseases and Bacillus Calmette-Guérin (BCG)-Vaccine–Derived Complications: A Systematic Review

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2020-04, Vol.8 (4), p.1371-1386

2020

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RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency

Journal of allergy and clinical immunology, 2015-05, Vol.135 (5), p.1380-1384.e5

2015

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X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia

Journal of clinical immunology, 2022-01, Vol.42 (1), p.1-9

2022

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Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia

Journal of clinical immunology, 2021-01, Vol.41 (1), p.76-88

2021

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Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review

Frontiers in immunology, 2020-05, Vol.11, p.831-831

2020

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Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing

Molecular immunology, 2021-09, Vol.137, p.57-66

2021

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SARS-CoV-2 infection in patients with inborn errors of immunity due to DNA repair defects

Acta biochimica et biophysica Sinica, 2022-06, Vol.54 (6), p.836-846

2022

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JAGN1 mutation with distinct clinical features; two case reports and literature review

BMC pediatrics, 2023-04, Vol.23 (1), p.206-206, Article 206

2023

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T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects

Journal of clinical immunology, 2022-02, Vol.42 (2), p.375-393

2022

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Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients

Journal of clinical immunology, 2022-01, Vol.42 (1), p.72-84

2022

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Editorial: Contemporary challenges in diagnosis and treatment of predominantly antibody deficiency

Frontiers in immunology, 2022-08, Vol.13, p.959720-959720

2022

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Assessment of the first presentations of common variable immunodeficiency in a large cohort of patients

BMC immunology, 2023-06, Vol.24 (1), p.9-9, Article 9

2023

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Current genetic landscape in common variable immune deficiency

Ataxia‐telangiectasia: A review of clinical features and molecular pathology

Specific Immune Response and Cytokine Production in CD70 Deficiency

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

A hypomorphic recombination-activating gene 1 ( RAG1 ) mutation resulting in a phenotype resembling common variable immunodeficiency

Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency

Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review

B- and T-Cell Subset Abnormalities in Monogenic Common Variable Immunodeficiency

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions

Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome

Hallmarks of Cancers: Primary Antibody Deficiency Versus Other Inborn Errors of Immunity

From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature

Primary Immunodeficiency Diseases and Bacillus Calmette-Guérin (BCG)-Vaccine–Derived Complications: A Systematic Review

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency

X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia

Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia

Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review

Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing

SARS-CoV-2 infection in patients with inborn errors of immunity due to DNA repair defects

JAGN1 mutation with distinct clinical features; two case reports and literature review

Novel mutations in TNFRSF7 / CD27 : Clinical, immunologic, and genetic characterization of human CD27 deficiency

T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects

Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients

Editorial: Contemporary challenges in diagnosis and treatment of predominantly antibody deficiency

Assessment of the first presentations of common variable immunodeficiency in a large cohort of patients

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