Haploinsufficiency of A20 (HA20) is an immune dysregulation dysfunction brought on by loss-of-function TNFAIP3 mutations. This worldwide multicenter examine ...
Spreek je Nederlands? Wetenschapper in wording is nu ook in het Nederlands verkrijgbaar! Dankjewel Liesbeth Aerts en Annelies Van Dyck.
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Activated PI3Kδ syndrome (APDS) is an inborn error of immunity brought on by pathogenic variants in PIK3CD or PIK3R1. Many sufferers current with variants of ...
Eosinophils play necessary roles in tissue restore processes. Nonetheless, their involvement also can result in fibrotic adjustments, as evidenced by airway ...
Subjective complaints akin to stomach ache throughout oral meals challenges (OFCs), pose a diagnostic dilemma, as they might not point out an goal allergic ...
Deletions within the 22q11.2 area differ in measurement and site. The basic 22q11.2 deletion syndrome (22q11.2del) features a deletion of the LCR (low copy ...
With regard to the article printed within the March 2025 situation entitled “IRF2BP2 deficiency: An necessary type of widespread variable immunodeficiency with ...
Basophils, historically related to allergic responses, have lately been acknowledged as immunoregulatory cells, but their position in tissue restore stays ...
Hereditary angioedema (HAE) is a genetic dysfunction attributable to both deficiency of C1esterase inhibitor (C1-INH; 85% of instances) or regular to excessive ...