Current Approach to Primary Immunodeficiency Diseases
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]
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
Jennifer Heimall, Morton J. Cowan
openalex +3 more sources
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]
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]
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
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]
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
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
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

