Clinical presentation, diagnosis, and treatment of chronic granulomatous disease
O Staudacher, H von Bernuth - Frontiers in Pediatrics, 2024 - frontiersin.org
Chronic granulomatous disease (CGD) is caused by an impaired respiratory burst reaction
in phagocytes. CGD is an X-linked (XL)(caused by pathogenic variants in CYBB) or …
in phagocytes. CGD is an X-linked (XL)(caused by pathogenic variants in CYBB) or …
Hematologically important mutations: leukocyte adhesion deficiency (second update)
D Roos, K Van Leeuwen, M Madkaikar… - Blood Cells, Molecules …, 2023 - Elsevier
Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the
adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients …
adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients …
Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India
Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that
include primary immunodeficiency's and other disorders affecting different aspects of the …
include primary immunodeficiency's and other disorders affecting different aspects of the …
Genetic characteristics of a large pediatric cohort of patients with inborn errors of immunity: single-center experience
N Kuzmenko, M Alexenko, A Mukhina, Y Rodina… - Journal of Clinical …, 2024 - Springer
More than 450 genetic defects result in inborn errors of immunity (IEI). Their individual
prevalence in specific cohorts is influenced by national characteristics and other factors. We …
prevalence in specific cohorts is influenced by national characteristics and other factors. We …
Dupilumab for STAT3-Hyper-IgE syndrome with refractory intestinal complication
CW Lu, WI Lee, WH Chung - Pediatrics, 2021 - publications.aap.org
STAT3 hyper–immunoglobulin E syndrome (STAT3-HIES) is a rare primary
immunodeficiency syndrome characterized by elevated serum immunoglobulin E levels …
immunodeficiency syndrome characterized by elevated serum immunoglobulin E levels …
Sequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families
H Fayyaz, A Zaman, N Haider, R Waris, M Hussain… - Immunogenetics, 2024 - Springer
Inborn errors of immunity (IEI) are defined as genetic disorders affecting the immune system
and resulting in diverse clinical signs and symptoms. Despite the lack of diagnosis and …
and resulting in diverse clinical signs and symptoms. Despite the lack of diagnosis and …
[PDF][PDF] The spectrum of inborn errors of immunity: a single tertiary center retrospective study in Alborz, Iran
SE Rasouli, M Tavakol, H Sadri… - Eur Ann Allergy Clin …, 2021 - eurannallergyimm.com
Background. Inborn errors of immunity (IEIs) are a group of heterogeneous disorders with
inherited faults in the immune system that increase susceptibility to infections, malignancies …
inherited faults in the immune system that increase susceptibility to infections, malignancies …
Sequence variants in the ITGB2 gene underlying leukocyte adhesion deficiency Type-1 in four consanguineous families
Integrins are integral transmembrane proteins involved in various biological activities. One
such protein β2 integrin CD18, encoded by ITGB2 gene, is involved in leukocyte adhesion …
such protein β2 integrin CD18, encoded by ITGB2 gene, is involved in leukocyte adhesion …
Spectrum of different categories of Primary Immunodeficiency Disorders diagnosed at Children Hospital
A Iftikhar, M Nazar, A Chaudry, A Qaisar - Pakistan Journal of Medical …, 2025 - pjms.org.pk
Objective: To determine the frequency and spectrum of different categories of Primary
immunodeficiency disorders (PIDD). Methodology: This was a prospective, observational …
immunodeficiency disorders (PIDD). Methodology: This was a prospective, observational …
Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III
Background Leukocyte and platelet integrin function defects are present in leukocyte
adhesion deficiency type III (LAD-III) due to mutations in FERMT3. Additionally …
adhesion deficiency type III (LAD-III) due to mutations in FERMT3. Additionally …