By Asghar Aghamohammadi M.D., Ph.D. (auth.), Asghar Aghamohammadi, Nima Rezaei (eds.)
Primary immunodeficiency ailments (PIDs) are a heterogeneous crew of inherited problems characterised through diverse defects within the improvement and serve as of the immune method. This e-book goals to extend the medical expertise and data of training clinicians concerning the analysis and administration of PIDs. so that it will do so objective, approximately ninety instances drawn from actual lifestyles are offered, in addition to nearly three hundred comparable questions. the chosen case reviews are the results of the useful cooperation of greater than forty scientists within the box of immunodeficiency. They concentration either at the featuring positive aspects of sufferers with PIDs and at the required extra research and administration. all the numbered situations is through the questions, their solutions, and extra dialogue. every one query makes a speciality of a selected element of the PID into account, and the themes lined comprise medical analysis, laboratory findings, molecular mechanisms, and therapy.
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Additional resources for Clinical Cases in Primary Immunodeficiency Diseases: A Problem-Solving Approach
Aghamohammadi et al. 1 (continued) Normal Normal Normal Affected Circulating B cell Normal Normal Normal Normal Serum Ig Neutrophils, melanocytes, and lymphocytes are affected; neutropenia; hypogammaglobulinemia; reduced CD8 cytotoxicity; partial albinism growth failure Neutrophil is affected; myeloid differentiation is affected; cardiomyopathy; growth retardation Neutrophil is affected; myeloid differentiation is affected; retinopathy; developmental delay; facial dysmorphisms Neutrophil is affected; myeloid differentiation, chemotaxis, and O2 production are affected; poikiloderma; MDS Associated features Mutation in COH1: unknown Mutation in C16orf57: unknown AR Mutation in Tafazzin (TAZ): abnormal lipid structure of mitochondrial membrane Mutation in ROBLD3: Endosomal adaptor protein 14 Genetic defect/presumed pathogenesis AR XL AR Inheritance 28 A.
Aghamohammadi et al. 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.
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.
Clinical Cases in Primary Immunodeficiency Diseases: A Problem-Solving Approach by Asghar Aghamohammadi M.D., Ph.D. (auth.), Asghar Aghamohammadi, Nima Rezaei (eds.)