Results 31 to 40 of about 5,770,503 (368)

Current Approach to Primary Immunodeficiency Diseases

open access: yesSouthern Clinics of Istanbul Eurasia, 2019
Primary immunodeficiency diseases (PIDD) are inherited disorders resulting from defects in diverse elements of the human immune system. Currently, more than 330 PIDDs have been described, and the molecular (genetic) bases for more than 320 of them are ...
Öner Özdemir
doaj   +1 more source

Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]

open access: yes, 2013
The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
Davies, EG
core   +2 more sources

Long term outcomes of severe combined immunodeficiency: therapy implications

open access: greenExpert Review of Clinical Immunology, 2017
Jennifer Heimall, Morton J. Cowan
openalex   +3 more sources

The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex

open access: yesFrontiers in Immunology, 2018
The caspase recruitment domain family member 11 (CARD11 or CARMA1)—B cell CLL/lymphoma 10 (BCL10)—MALT1 paracaspase (MALT1) [CBM] signalosome complex serves as a molecular bridge between cell surface antigen receptor signaling and the activation of the ...
Henry Y. Lu   +8 more
doaj   +1 more source

Modulation of tryptophan/serotonin pathway by probiotic supplementation in human immunodeficiency virus-positive patients: preliminary results of a new study approach [PDF]

open access: yes, 2017
Background: To date, no data are available regarding the effects of probiotics on the pathway of tryptophan/serotonin metabolism among human immunodeficiency virus (HIV) 1–infected individuals.
Cavallari, Eugenio Nelson   +14 more
core   +3 more sources

Health-Related Quality of Life in Patients with CVID Under Different Schedules of Immunoglobulin Administration: Prospective Multicenter Study [PDF]

open access: yes, 2019
We assessed the health-related quality of life (HRQoL) in CVID adults receiving different schedules of immunoglobulin replacement therapy (IgRT) by intravenous (IVIG), subcutaneous (SCIG), and facilitated (fSCIG) preparations.
Agostini, Carlo   +13 more
core   +2 more sources

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency

open access: yesFrontiers in Pediatrics, 2019
Proteins expressed by recombination activating genes 1 and 2 (RAG1/2) are essential in the process of V(D)J recombination that leads to generation of the T and B cell repertoires.
Mayra B. Dorna   +12 more
doaj   +1 more source

altered expression of cD300a inhibitory receptor on cD4+ T cells From human immunodeficiency Virus-1-infected Patients: association With Disease Progression Markers. [PDF]

open access: yes, 2018
The ability of the CD300a inhibitory receptor to modulate immune cell functions and its involvement in the pathogenesis of many diseases has aroused a great interest in this molecule.
Genebat González, Miguel   +3 more
core   +1 more source

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017

open access: yesPediatrics, 2019
NBS has improved the detection, diagnosis, treatment, and basic understanding of SCID; infants with TCL are also detected, facilitating management. OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in ...
George S. Amatuni   +21 more
semanticscholar   +1 more source

Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside

open access: yesFrontiers in Pediatrics, 2019
Inborn errors of immunity are genetic disorders with broad clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation, often leading to multiple autoimmune phenomena, lymphoproliferation, and ...
Ottavia Maria Delmonte   +5 more
doaj   +1 more source

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