Results 231 to 240 of about 357,974 (288)

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes   +6 more
wiley   +1 more source

Cutaneous Manifestations in Primary Immunodeficiency Diseases: A Comprehensive Review

open access: yesWorld Allergy Organization Journal
Samin Sharafian, Zahra Chavoshzadeh
doaj   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

open access: yesMovement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan   +4 more
wiley   +1 more source

Appendiceal Crohn's Disease Manifesting as Appendiceal Malignancy: A Case Report and Review of the Literature

open access: yes
The Kaohsiung Journal of Medical Sciences, EarlyView.
Ming‐Jung Meng   +3 more
wiley   +1 more source

12. Primary immunodeficiency diseases

Journal of Allergy and Clinical Immunology, 2003
Although primary immunodeficiency disorders are relatively rare, intensive investigation of these disorders has yielded a great wealth of understanding of basic immunologic mechanisms in host defense, inflammation, and autoimmunity. These advances have led to important developments for the treatment not only of the primary immunodeficiencies but also ...
Francisco A, Bonilla, Raif S, Geha
openaire   +2 more sources

Primary Immunodeficiency Diseases

1976
Rare individuals, experiments of nature who suffer the often devastating consequences of a congenital defect within the immune system, have served to teach us much of what we know today about the complex immune response of man (36,39,54). From a careful study of them and their diseases, together with related studies in the laboratory, we have learned ...
R A, Good, M A, Hansen
openaire   +2 more sources

Primary Immunodeficiency Diseases

JAMA: The Journal of the American Medical Association, 1997
Primary immunodeficiencies are rare, but important for 3 reasons. First, a high index of suspicion and prompt diagnosis can lead to lifesaving treatment or significant improvement in quality of life. Second, appreciation of the genetic nature of a host defense defect makes possible family counseling and carrier and prenatal diagnosis.
openaire   +2 more sources

Neutropenia and Primary Immunodeficiency Diseases

International Reviews of Immunology, 2009
Primary immunodeficiency diseases (PID) are a heterogeneous group of congenital disorders of the immune system leading to recurrent infections, autoimmunity, malignancies, and hematological disorders. This review focuses specifically on inherited disorders associated with neutropenia, which may occur in isolation or as a feature of more complex immune ...
Nima, Rezaei   +3 more
openaire   +2 more sources

Primary immunodeficiency diseases: An update

Journal of Allergy and Clinical Immunology, 2004
Although relatively rare, primary immune deficiency diseases (PIDs) provide an excellent window into the functioning of the immune system. In the late 1960s, observations on these diseases, with their associated infections and genetics, bisected the immune system into humoral immunity and cell-mediated immunity.
Luigi, Notarangelo   +6 more
openaire   +2 more sources

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