Clinical phenotypes of hyper-IgM syndromes
MT de la Morena - The Journal of Allergy and Clinical Immunology: In …, 2016 - Elsevier
The primary immunodeficiency (PID) diseases comprise a heterogeneous group of inherited
disorders of immune function. Technical advancements in whole-genome, whole-exome …
disorders of immune function. Technical advancements in whole-genome, whole-exome …
Primary immunodeficiency diseases: An update from the international union of immunological societies primary immunodeficiency diseases classification committee …
Although relatively rare, primary immunodeficiency diseases (PIDs) provide an excellent
window into the functioning of the immune system. In the late 1960s, observations on these …
window into the functioning of the immune system. In the late 1960s, observations on these …
Hyper IgM syndrome: a report from the USIDNET registry
EA Leven, P Maffucci, HD Ochs, PR Scholl… - Journal of clinical …, 2016 - Springer
Abstract Purpose The United States Immunodeficiency Network (USIDNET) patient registry
was used to characterize the presentation, genetics, phenotypes, and treatment of patients …
was used to characterize the presentation, genetics, phenotypes, and treatment of patients …
The hyper IgM syndromes
N Qamar, RL Fuleihan - Clinical reviews in allergy & immunology, 2014 - Springer
The hyper IgM syndromes are a group of rare inherited immune deficiency disorders
characterized by impairment of immunoglobulin isotype switching resulting from defects in …
characterized by impairment of immunoglobulin isotype switching resulting from defects in …
Genetically acquired class-switch recombination defects: the multi-faced hyper-IgM syndrome
M Erdős, A Durandy, L Maródi - Immunology letters, 2005 - Elsevier
Genetically acquired class-switch recombination defects: the multi-faced hyper-IgM syndrome -
ScienceDirect Skip to main contentSkip to article Elsevier logo Journals & Books Help Search …
ScienceDirect Skip to main contentSkip to article Elsevier logo Journals & Books Help Search …
Hyper IgM syndromes
AV Gulino, LD Notarangelo - Current opinion in rheumatology, 2003 - journals.lww.com
The immune defense against extracellular pathogens is largely dependent on antibody
production. Class switch recombination and somatic hypermutation shape the secondary …
production. Class switch recombination and somatic hypermutation shape the secondary …
Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism
Y Okuno, A Hoshino, H Muramatsu… - Journal of clinical …, 2015 - Springer
Primary immunodeficiency disease (PID) is caused by mutations of more than two hundred
immunity-related genes. In addition to the heterogeneity of the diseases, the atypical …
immunity-related genes. In addition to the heterogeneity of the diseases, the atypical …
[HTML][HTML] Novel genetic discoveries in primary immunodeficiency disorders
MT Redmond, R Scherzer, BT Prince - Clinical reviews in allergy & …, 2022 - Springer
The field of Immunology is one that has undergone great expansion in recent years. With the
advent of new diagnostic modalities including a variety of genetic tests (discussed …
advent of new diagnostic modalities including a variety of genetic tests (discussed …
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management
Abstract Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency
disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or …
disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or …
Primary immunodeficiencies with elevated IgE
TH Mogensen - International reviews of immunology, 2016 - Taylor & Francis
In recent years a number of primary immunodeficiencies (PIDs) characterized by elevated
Immunoglobulin E (IgE) levels have been uncovered and termed as Hyper-IgE syndrome …
Immunoglobulin E (IgE) levels have been uncovered and termed as Hyper-IgE syndrome …