Diagnostic challenges in patients with inborn errors of immunity with different manifestations of immune dysregulation
K Pieniawska-Śmiech, G Pasternak… - Journal of Clinical …, 2022 - mdpi.com
Inborn errors of immunity (IEI), formerly known as primary immunodeficiency disorders
(PIDs), are inherited disorders caused by damaging germline variants in single genes …
(PIDs), are inherited disorders caused by damaging germline variants in single genes …
Primary atopic disorders
JD Milner - Annual Review of Immunology, 2020 - annualreviews.org
Primary atopic disorders describes a series of monogenic diseases that have allergy-or
atopic effector–related symptoms as a substantial feature. The underlying pathogenic …
atopic effector–related symptoms as a substantial feature. The underlying pathogenic …
[HTML][HTML] Inborn errors of immunity with atopic phenotypes: a practical guide for allergists
R Castagnoli, V Lougaris, G Giardino, S Volpi… - World Allergy …, 2021 - Elsevier
Inborn errors of immunity (IEI) are a heterogeneous group of disorders, mainly resulting from
mutations in genes associated with immunoregulation and immune host defense. These …
mutations in genes associated with immunoregulation and immune host defense. These …
B cell receptor ligation induces IgE plasma cell elimination
AK Wade-Vallance, Z Yang, JB Libang… - Journal of Experimental …, 2023 - rupress.org
The proper regulation of IgE production safeguards against allergic disease, highlighting the
importance of mechanisms that restrict IgE plasma cell (PC) survival. IgE PCs have …
importance of mechanisms that restrict IgE plasma cell (PC) survival. IgE PCs have …
Common variable immune deficiency and associated complications
S Gupta, D Pattanaik, G Krishnaswamy - Chest, 2019 - Elsevier
Common variable immunodeficiency disorders refer to a relatively common primary immune
deficiency group of diseases that present with infectious and inflammatory complications …
deficiency group of diseases that present with infectious and inflammatory complications …
Pathway-specific defects in T, B, and NK cells and age-dependent development of high IgE in mice heterozygous for a CADINS-associated dominant negative …
SM Hutcherson, JR Bedsaul… - The Journal of …, 2021 - journals.aai.org
CARD11 is a multidomain scaffold protein required for normal activation of NF-κB, JNK, and
mTOR during Ag receptor signaling. Germline CARD11 mutations cause at least three types …
mTOR during Ag receptor signaling. Germline CARD11 mutations cause at least three types …
Inborn errors of immunity associated with type 2 inflammation in the USIDNET registry
Background Monogenic conditions that disrupt proper development and/or function of the
immune system are termed inborn errors of immunity (IEIs), also known as primary …
immune system are termed inborn errors of immunity (IEIs), also known as primary …
The importance of the transcription factor foxp3 in the development of primary immunodeficiencies
P Mertowska, S Mertowski, M Podgajna… - Journal of Clinical …, 2022 - mdpi.com
Transcription factors are an extremely important group of proteins that are responsible for
the process of selective activation or deactivation of other cellular proteins, usually at the last …
the process of selective activation or deactivation of other cellular proteins, usually at the last …
The prevalence of atopic manifestations in 313 Iranian patients with inborn errors of immunity
M Ghaini, M Jamee, SA Mahdaviani… - … Archives of Allergy and …, 2021 - karger.com
Introduction: Inborn errors of immunity (IEIs) are rare inherited disorders with a broad
spectrum of manifestations. Here, we aimed to delineate the atopy burden in a cohort of …
spectrum of manifestations. Here, we aimed to delineate the atopy burden in a cohort of …
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 …