4.8 Article

Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities

Salem Alawbathani et al.

Summary: This study confirms the role of ZNFX1 in primary genetic immunodeficiency, expands the genetic and clinical spectrum of ZNFX1-related disease, and highlights the usefulness of large, well-curated, and continually updated genotype-phenotype databases in resolving molecular diagnoses of patients with initially negative genetic testing findings.

CLINICAL GENETICS (2022)

Article Immunology

A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening

Nashat Al Sukaiti et al.

Summary: This study reports the clinical, immunological, and molecular findings of 36 children diagnosed with SCID at a tertiary medical center in Oman over the past decade. The results show a median annual incidence rate of 4.5 per 100,000 Omani live births, with 91.7% of affected children born to consanguineous parents.

FRONTIERS IN IMMUNOLOGY (2021)

Article Allergy

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

Meri Kaustio et al.

Summary: This study delves into the disease mechanisms associated with loss of the DIAPH1 gene in SCBMS patients, revealing immune deficiency, defective cytoskeletal organization, and mitochondrial dysfunction as key factors. The findings suggest a complex interplay of genetic and cellular pathways contributing to the pathology of SCBMS.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2021)

Article Immunology

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Stuart G. Tangye et al.

Summary: The latest classification of inborn errors of immunity/primary immunodeficiencies by the International Union of Immunological Societies Expert Committee, published in January 2020, quickly became outdated due to the rapid pace of genetic variant discoveries in the field. To bridge the gap until the next official report in 2022, researchers have highlighted 26 additional monogenic gene defects as novel causes of immune defects.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

Review Medicine, General & Internal

Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications

Giorgio Costagliola et al.

Summary: In recent years, studies have revealed a significant association between immunodeficiency and autoimmunity, leading to the identification of new monogenic disorders and improved understanding of autoimmunity pathogenesis. Autoimmunity is frequently observed in patients with primary antibody deficiencies, combined immunodeficiency disorders, and disorders of innate immunity. Pathogenic mechanisms of autoimmunity in immunodeficiency involve altered immune reactions, impaired lymphocyte functions, and ineffective clearance of infectious agents. Therapeutic strategies for autoimmune conditions in immunodeficient patients are also discussed.

JOURNAL OF CLINICAL MEDICINE (2021)

Article Allergy

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Julian Thalhammer et al.

Summary: A study analyzed the age-related initial presenting manifestations of IEI in different disease cohorts, finding that the majority of patients initially presented with infections, while some had immune dysregulation or a combination of both. Males predominated before the age of 10, shifting to females after the age of 40. Infections were most prevalent as a first manifestation in patients over the age of 30.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2021)

Article Immunology

Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

Asghar Aghamohammadi et al.

Summary: In the Middle East and North Africa region, there is a significant burden of IEI patients with a high success rate of genetic diagnosis. This high yield of genetic diagnosis has important implications for prevention, prognosis, treatment, and resource allocation.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

Article Immunology

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

Aziz Bousfiha et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2020)

Review Immunology

Global systematic review of primary immunodeficiency registries

Hassan Abolhassani et al.

EXPERT REVIEW OF CLINICAL IMMUNOLOGY (2020)

Article Allergy

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

Markus G. Seidel et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2019)

Article Immunology

The Kuwait National Primary Immunodeficiency Registry 2004-2018

Waleed Al-Herz et al.

FRONTIERS IN IMMUNOLOGY (2019)

Article Genetics & Heredity

Stuve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway

Karolien Van De Maele et al.

CLINICAL DYSMORPHOLOGY (2019)

Article Immunology

Primary Immunodeficiency Diseases in Oman: 10-Year Experience in a Tertiary Care Hospital

Salem Al-Tamemi et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2016)

Article Immunology

The Duesseldorf Warning Signs for Primary Immunodeficiency: Is it Time to Change the Rules?

Petra Lankisch et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2015)

Article Immunology

The German national registry for primary immunodeficiencies (PID)

B. Gathmann et al.

CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2013)

Article Immunology

Primary Immunodeficiency Diseases in Children: 15 Year Experience in a Tertiary Care Medical Center in Qatar

Mohammad S. Ehlayel et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2013)

Article Physiology

The role of the E2F1 transcription factor in the innate immune response to systemic LPS

Laura A. Warg et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2012)

Article Genetics & Heredity

Thirty years of primary immunodeficiencies in Turkey

Ozden Sanal et al.

YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I (2011)

Article Genetics & Heredity

Primary immunodeficiencies in highly consanguineous North African populations

Mohamed-Ridha Barbouche et al.

YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I (2011)

Article Genetics & Heredity

Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century

Peter D. Arkwright et al.

YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I (2011)

Article Immunology

Primary Immunodeficiency Diseases in Egyptian Children: A Single-Center Study

Shereen M. Reda et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2009)

Article Medicine, General & Internal

Incidence and Temporal Trends of Primary Immunodeficiency: A Population-Based Cohort Study

Avni Y. Joshi et al.

MAYO CLINIC PROCEEDINGS (2009)