The lung in inborn errors of immunity: From clinical disease patterns to molecular pathogenesis
In addition to being a vital organ for gas exchange, the lung is a crucial immune organ
continuously exposed to the external environment. Genetic defects that impair immune …
continuously exposed to the external environment. Genetic defects that impair immune …
Interstitial lung diseases in inborn errors of immunity
NP Sullivan, N Maniam… - Current Opinion in Allergy …, 2023 - journals.lww.com
ILD is a frequent complication found in many IEI. This article provides a guide to identifying
manifestations of ILD in IEI. We review a broad spectrum of IEI that develop ILD, including …
manifestations of ILD in IEI. We review a broad spectrum of IEI that develop ILD, including …
Genetic diagnosis of immune dysregulation can lead to targeted therapy for interstitial lung disease: A case series and single center approach
H Wobma, R Perkins, L Bartnikas… - Pediatric …, 2022 - Wiley Online Library
In recent years, a growing number of monogenic disorders have been described that are
characterized by immune dysregulation. A subset of these “primary immune regulatory …
characterized by immune dysregulation. A subset of these “primary immune regulatory …
[HTML][HTML] Pulmonary manifestations in a cohort of patients with inborn errors of immunity: an 8-year follow-up study
M Movahedi, M Jamee, H Ghaffaripour… - Allergologia et …, 2022 - all-imm.com
Background Inborn errors of immunity (IEIs) are a group of congenital diseases caused by
genetic defects in the development and function of the immune system. The involvement of …
genetic defects in the development and function of the immune system. The involvement of …
[HTML][HTML] Inborn errors of immunity in adulthood
JJF Wang, A Dhir, KJ Hildebrand, SE Turvey… - Allergy, Asthma & …, 2024 - Springer
Inborn errors of immunity (IEIs) are a group of conditions whereby parts of the immune
system are missing or dysfunctional. Once thought to primarily be a pediatric disorder, it is …
system are missing or dysfunctional. Once thought to primarily be a pediatric disorder, it is …
Inborn errors of immunity: an expanding universe of disease and genetic architecture
YT Akalu, D Bogunovic - Nature Reviews Genetics, 2024 - nature.com
Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of
the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy …
the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy …
Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: a call for access to genetic testing
A Branch, B Modi, B Bahrani… - Pediatric Allergy and …, 2021 - Wiley Online Library
Background Inborn errors of immunity (IEIs) are a group of conditions affecting immune
system development and function. Due to their clinical heterogeneity and lack of provider …
system development and function. Due to their clinical heterogeneity and lack of provider …
Recurrent respiratory infections between immunity and atopy
C Cuppari, L Colavita… - Pediatric Allergy and …, 2020 - Wiley Online Library
Recurrent respiratory infections (RRI s) are frequent in children and are characterized by
more than 6 airway infections in 1 year or more than 1 upper airway infection per month in …
more than 6 airway infections in 1 year or more than 1 upper airway infection per month in …
Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort
M Tengsujaritkul, N Suratannon, C Ittiwut… - Pediatric Allergy and …, 2022 - Wiley Online Library
Background Inborn errors of immunity (IEI) comprise more than 400 rare diseases with
potential life‐threatening conditions. Clinical manifestations and genetic defects are …
potential life‐threatening conditions. Clinical manifestations and genetic defects are …
Current genetic diagnostics in inborn errors of immunity
S von Hardenberg, I Klefenz, D Steinemann… - Frontiers in …, 2024 - frontiersin.org
New technologies in genetic diagnostics have revolutionized the understanding and
management of rare diseases. This review highlights the significant advances and latest …
management of rare diseases. This review highlights the significant advances and latest …
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