By Asghar Aghamohammadi M.D., Ph.D. (auth.), Asghar Aghamohammadi, Nima Rezaei (eds.)
Primary immunodeficiency ailments (PIDs) are a heterogeneous crew of inherited issues characterised by means of varied defects within the improvement and serve as of the immune approach. This publication goals to extend the scientific wisdom and information of training clinicians in regards to the prognosis and administration of PIDs. as a way to do so target, approximately ninety circumstances drawn from actual existence are offered, besides nearly three hundred similar questions. the chosen case studies are the results of the helpful cooperation of greater than forty scientists within the box of immunodeficiency. They concentration either at the proposing good points of sufferers with PIDs and at the required extra research and administration. all the numbered situations is by way of the questions, their solutions, and extra dialogue. every one query specializes in a specific point of the PID into account, and the themes coated comprise scientific prognosis, laboratory findings, molecular mechanisms, and therapy.
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Extra resources for Clinical Cases in Primary Immunodeficiency Diseases: A Problem-Solving Approach
1 (continued) Normal Normal SwItched B cells are reduced Circulating B cell Normal SwItched B cells are reduced Circulating T cell SwItched B cells are reduced IgG and IgA decreased Normal Serum Ig IgA decreased/absent Variable Inheritance Variable Normal ability to Variable make antibodies to vaccine antigens, usually not associated with significant infections Associated features Usually asymptomatic; may have recurrent infections with poor antibody responses to carbohydrate antigens; may have allergies or autoimmune disease.
1 (continued) Low IgG and IgM Low IgG, normal or elevated IgM and IgA Low IgG and IgA and/or IgM Low IgG, low or normal IgA and IgM Low IgG and IgA and/or IgM Low IgG and IgA and/or IgM Serum Ig Low IgG and IgA and/or IgM Variable clinical expression Variable clinical expression May have glomerulonephritis May have glomerulonephritis AR AD or AR or complex AR AR AR Associated features Inheritance Clinical phenotypes Variable vary: most have recurrent infections, some have polyclonal lymphoproliferation, autoimmune cytopenias, and/or granulomatous disease AR Mutations in TNFRSF13C (BAFF-R) Mutations in TNFRSF13B (TACI) Mutations in CD19; transmembrane protein that amplifies signal through BCR Mutations in CD81; transmembrane protein that amplifies signal through BCR Mutations in CD20 Mutations in ICOS Genetic defect/presumed pathogenesis Unknown 18 A.
Aghamohammadi et al. 1 (continued) Normal Normal Normal Normal Serum Ig Neutrophils and melanocytes are affected; motility affected; mental retardation; short stature Nutrophils are affected; formylpeptide-induced chemotaxis is affected; periodontitis only Neutrophils and melanocytes are affected; chemotaxis is affected; periodontitis; palmoplantar hyperkeratosis in some patients Neutrophils are affected; chemotaxis is affected; neutrophils with bilobed nuclei Associated features AR AR AR AD Inheritance Mutation in C/EBPE: myeloid transcription factor Mutation in CTSC: cathepsin C activation of serine proteases Mutation in FPR1: vhemokine receptor Mutation in ACTB: cytoplasmic Actin Genetic defect/presumed pathogenesis 30 A.