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Primary immunodeficiency [PDF]

Allergy, Asthma & Clinical Immunology, 2011
Primary immunodeficiency disorder (PID) refers to a heterogeneous group of over 130 disorders that result from defects in immune system development and/or function. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders ...
Christine McCusker, Richard Warrington
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Primary immunodeficiency [PDF]

Allergy, Asthma & Clinical Immunology, 2018
Primary immunodeficiency disorder (PID) refers to a large heterogeneous group of disorders that result from defects in immune system development and/or function. PIDs are broadly classified as disorders of adaptive immunity (i.e., T cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders).
McCusker, Christine, Upton, Julia, Warrington, Richard   +2 more
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PI3Kδ and primary immunodeficiencies [PDF]

Nature Reviews Immunology, 2016
Primary immunodeficiencies are inherited disorders of the immune system, often caused by the mutation of genes required for lymphocyte development and activation. Recently, several studies have identified gain-of-function mutations in the phosphoinositide 3-kinase (PI3K) genes PIK3CD (which encodes p110δ) and PIK3R1 (which encodes p85α) that cause a ...
Lucas, Carrie L, Chandra, Anita, Nejentsev, Sergey, Condliffe, Alison M, Okkenhaug, Klaus   +4 more
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Update in Primary Immunodeficiencies.

Acta bio-medica : Atenei Parmensis, 2020
Primary immunodeficiencies (PIDs) are inherited disorders classically characterized by increased susceptibility to infections. Nevertheless, in the last two decades, genomic analysis (such as NGS) coupled with biochemical and cellular studies led to a more accurate definition for a growing number of novel genetic disorders associated with PIDs.
Leonardi L., Rivalta B., Cancrini C., Chiappini E., Cravidi C., Caffarelli C., Manti S., Calvani M., Martelli A., Del Giudice M. M., Duse M., Marseglia G. L., Cardinale F.   +12 more
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Consanguinity and Primary Immunodeficiencies [PDF]

Human Heredity, 2014
Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more common in areas with high rates of consanguineous ...
Waleed Al-Herz, Nima Rezaei, Mohamed-Ridha Barbouche, Hasan Al-Dhekri   +3 more
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A rare primary immunodeficiency [PDF]

BMJ Case Reports, 2014
A 9-year-old girl presented with failure to thrive, chronic mucopurulent nasal discharge, recurrent skin pustules and recurrent episodes of purulent ear discharge since 2 years of age. She had coarse facial features with extensive eczema, multiple pyoderma scars, florid dental caries, retained primary dentition, hypermobile joints and a woody ...
Shobhana Sivathanu, Poornima Nagaraj, Nithiyanantham Ramakrishnan, Sowmya Sampath   +3 more
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Primary immunodeficiency and the microbiome

Current Opinion in Pediatrics, 2021
Purpose of review The current understanding of the relationship of the microbiota to clinical manifestation in patients with primary immunodeficiency, specifically the inflammatory processes caused by or that result in microbial dysbiosis, and their potential therapeutic options in primary immunodeficiency diseases (PID), is ...
Maryam Ali Al-Nesf, David J. Morgan, Vidya Mohamed-Ali   +2 more
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Primary Immunodeficiencies [PDF]

Mayo Clinic Proceedings, 1998
The primary immunodeficiencies are congenital disorders that affect the function of the immune system. The result is an inadequate immune response to microorganisms, self-antigens, and tumor cells, which leads to increased susceptibility to infections, autoimmunity, or malignant disease.
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MET variants with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

Molecular Oncology, EarlyView.
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin, Audrey Vinchent, Marie Fernandes, Isabelle Damour, Agathe Laratte, Rémi Tellier, Gabriella O. Estevam, Jean‐Pascal Meneboo, Céline Villenet, Clotilde Descarpentries, James S. Fraser, Martin Figeac, Alexis B. Cortot, Etienne Rouleau, David Tulasne   +14 more
wiley   +1 more source

Neutropenia in primary immunodeficiency [PDF]

Current Opinion in Hematology, 2013
Neutropenia is a feature of several primary immunodeficiency diseases (PIDDs). Because of the diverse pathophysiologies of the PIDDs and the rarity of each disorder, data are often lacking, leading to the necessity of empiric treatment. Recent developments in the understanding of neutropenia in several of the PIDDs make a review of the data timely.The ...
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