Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis (Q57289938)

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27 April 2020

title

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis (English)

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Alireza Mahdaviani

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Amir Ali Hamidieh

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Delara Babaie

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Lennart Hammarström

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Asghar Aghamohammadi

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Taher Cheraghi

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Javad Ghaffari

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Nima Rezaei

Nima Rezaei

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Marzieh Tavakol

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Marzieh Tavakol

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Marzieh Heidarzadeh

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Babak Ghalebaghi

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Babak Ghalebaghi

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Mohammad Hassan Bemanian

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Mohammad Hassan Bemanian

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Saba Arshi

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Saba Arshi

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Parisa Ashournia

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Naser Javahertrash

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Naser Javahertrash

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Zahra Chavoshzadeh

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Morteza Fallahpour

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Behrang Taghvaei

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Seyed Mohammad Fathi

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Behzad Darabi

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Arezou Rezaei

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language of work or name

English

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publication date

9 October 2018

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Journal of Clinical Immunology

27 April 2020

published in

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volume

38

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issue

7

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page(s)

816-832

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A simple salting out procedure for extracting DNA from human nucleated cells

27 April 2020

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12 December 2020

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

1 reference

12 December 2020

MEFV mutations in Northwest of Iran: a cross sectional study

1 reference

12 December 2020

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

1 reference

12 December 2020

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

1 reference

12 December 2020

Familial Mediterranean Fever in Iran: A Report from FMF Registration Center

1 reference

12 December 2020

Investigation of ITGB2 gene in 12 new cases of leukocyte adhesion deficiency-type I revealed four novel mutations from Iran

1 reference

12 December 2020

A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report

1 reference

12 December 2020

Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1.

1 reference

12 December 2020

Spectrum of Phenotypes Associated with Mutations in LRBA.

1 reference

12 December 2020

Long-term follow-up of ninety eight Iranian patients with primary immune deficiency in a single tertiary centre

1 reference

12 December 2020

The mutation significance cutoff: gene-level thresholds for variant predictions

1 reference

12 December 2020

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects

1 reference

12 December 2020

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

1 reference

12 December 2020

DOCK8 deficiency in six Iranian patients

1 reference

12 December 2020

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

1 reference

12 December 2020

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).

1 reference

12 December 2020

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

1 reference

12 December 2020

Latin American challenges with the diagnosis and treatment of primary immunodeficiency diseases

1 reference

12 December 2020

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

1 reference

12 December 2020

A Novel CYBB Mutation in Chronic Granulomatous Disease in Iran

1 reference

12 December 2020

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran

1 reference

12 December 2020

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency

1 reference

12 December 2020

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

1 reference

12 December 2020

Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience.

1 reference

12 December 2020

Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome

1 reference

12 December 2020

A new ataxia-telangiectasia mutation in an 11-year-old female

1 reference

12 December 2020

Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study.

1 reference

12 December 2020

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis

1 reference

12 December 2020

MHC class II deficiency: Report of a novel mutation and special review

1 reference

12 December 2020

Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care

1 reference

12 December 2020

Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature.

1 reference

12 December 2020

Clinical, Immunological and Genetic Spectrum of 696 Patients with Combined Immunodeﬁciency.

1 reference

12 December 2020

Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.

1 reference

12 December 2020

DOCK2 Deficiency in a Patient with Hyper IgM Phenotype.

1 reference

12 December 2020

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

1 reference

12 December 2020

Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10875-018-0556-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30302726 AND SRC:MED&resulttype=core&format=json

27 April 2020

1 reference