Newborn screening through TREC, TREC/KREC system for primary immunodeficiency with limitation of TREC/KREC. comprehensive review

K Shinwari, M Bolkov, IA Tuzankina… - Anti-Inflammatory & …, 2021 - ingentaconnect.com
Introduction: Newborn screening (NBS) by quantifying T cell receptor excision circles
(TRECs) and Kappa receptor excision circles in neonatal dried blood spots (DBS) enables …

Primary immunodeficiencies in India: molecular diagnosis and the role of next-generation sequencing

AK Arunachalam, M Maddali, FN Aboobacker… - Journal of clinical …, 2021 - Springer
Primary immunodeficiency diseases (PIDs) are a group of clinically and genetically
heterogeneous disorders showing ethnic and geographic diversities. Next-generation …

Effect of class switch recombination defect on the phenotype of ataxia-telangiectasia patients

P Amirifar, H Mozdarani, R Yazdani… - Immunological …, 2021 - Taylor & Francis
ABSTRACT Objectives: Ataxia-telangiectasia (AT) is an autosomal recessive
neurodegenerative disorder with multisystem involvement caused by homozygous or …

Clinical and mutation description of the first Iranian cohort of infantile inflammatory bowel disease: the Iranian Primary Immunodeficiency Registry (IPIDR)

F Rahmani, E Rayzan, MR Rahmani… - Immunological …, 2021 - Taylor & Francis
We describe a cohort of 25 Iranian patients with infantile inflammatory bowel disease (IBD),
14 (56%) of whom had monogenic defects. After proper screening, patients were referred for …

[HTML][HTML] BCGitis as the primary manifestation of chronic granulomatous disease

N Khalili, I Mohammadzadeh, N Khalili, RJ Heredia… - IDCases, 2021 - Elsevier
Patients with primary immunodeficiency disease (PID) are not only vulnerable to
mycobacterial disease, but are also more likely to develop adverse events following BCG …

[PDF][PDF] Retrospective Analysis of Autoimmune Diseases and Immunologic Characteristics of the Adult Primary Immune Deficiency Cohort: 17 Years Experience of the …

CT Dalgıç, AZ Sin, FÖ Ardeniz - Asthma Allergy Immunology, 2021 - researchgate.net
ABSTRACT Objective: Primary immunodeficiencies (PIDs) consist of genetically
heterogeneous disorders. The spectrum can include infectious diseases, malignancy …

Primary immunodeficiency diseases in Iran: past, present and future

A Aghamohammadi, H Abolhassani… - Archives of Iranian …, 2021 - journalaim.com
Clinical immunology and its subset topics are rather newly emerging medical fields in Iran
as well as other developing countries. Primary immunodeficiency diagnosis and treatment …

Анализ семейных случаев первичных иммунодефицитов в контексте генетического консультирования

НБ Кузьменко, АА Мухина, ЮА Родина… - … и иммунопатологии в …, 2021 - hemoncim.com
Аннотация Первичные иммунодефициты (ПИД) обусловлены дефектами в генах,
контролирующих работу иммунной системы. Мутации могут возникать de novo или …

[PDF][PDF] Vaccine-Derived Polioviruses and Children with Primary Immunodeficiency, Iran

Vaccine-Derived Polioviruses and Children with Primary Immunodeficiency, Iran, 1995–2014
Page 1 Widespread use of oral poliovirus vaccine has led to an ≈99.9% decrease in global …

Retrospective Analysis of Autoimmune Diseases and Immunologic Characteristics of the Adult Primary Immune Deficiency Cohort: 17 Years Experience of the Tertiary …

C TUNAKAN DALGIÇ, A ZERRİN SİN… - Asthma Allergy …, 2021 - search.ebscohost.com
Abstract Objective: Primary immunodeficiencies (PIDs) consist of genetically heterogeneous
disorders. The spectrum can include infectious diseases, malignancy, allergy, and …