By Asghar Aghamohammadi M.D., Ph.D. (auth.), Asghar Aghamohammadi, Nima Rezaei (eds.)
Primary immunodeficiency ailments (PIDs) are a heterogeneous workforce of inherited problems characterised via varied defects within the improvement and serve as of the immune method. This ebook goals to extend the scientific know-how and data of training clinicians in regards to the prognosis and administration of PIDs. on the way to do so objective, approximately ninety circumstances drawn from genuine lifestyles are offered, in addition to nearly three hundred comparable questions. the chosen case studies are the results of the worthwhile cooperation of greater than forty scientists within the box of immunodeficiency. They concentration either at the providing beneficial properties of sufferers with PIDs and at the required extra research and administration. all of the numbered instances is through the questions, their solutions, and extra dialogue. each one query specializes in a selected element 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
Aghamohammadi et al. CD25 deficiency Lack of Normal (and/or impaired function of) CD4+ CD25+ FOXP3+ regulatory T cells Normal to Normal modestly decreased IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) Normal Normal Normal Increased DN T cells APECED (autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy) FADD deficiency Normal Elevated IgA, IgE Normal Normal Lymphoproliferation, autoimmunity. 1 (continued) Normal B lymphopenia Normal Normal Normal Normal Circulating B cell Serum Ig Not Not assessed (elevated in assessed (B Itch-deficient mice) cells are dysfunctional in Itchdeficient mice) Neutrophils are affected; myeloid differentiation is affected; subgroup with myelodysplasia Neutrophils are affected; myeloid differentiation is affected Neutrophils are affected; myeloid differentiation is affected; cognitive and neurological defects in some patients Associated features Multiorgan autoimmunity, chronic lung disease, failure to thrive, developmental delay, macrocephaly AR AD AD Inheritance AR Mutation in HAX1: control of apoptosis Mutation in GFI1: loss of repression of ELANE Mutation in ELANE: misfolded protein response Genetic defect/presumed pathogenesis Mutations in Itch, an E3 ubiquitin ligase 26 A.
Aghamohammadi et al. Syndromes with autoimmunity Lymphoproliferative syndromes Increased CD4-CD8 doublenegative (DN) T cells Normal XIAP deficiency, XLP2 Autoimmune lymphoproliferative syndrome type 1a (Fas) Normal SH2D1A deficiency, XLP1 Low Normal or Normal, but Normal or increased increased number of CD5+ B cell Reduced Normal or Clinical and immunologic abnormalities triggered by EBV infection, including hepatitis, hemophagocytic syndrome, aplastic anemia and lymphoma, dysgammaglobulinemia or hypogammaglobulinemia, low to absent NKT cells Clinical and immunologic abnormalities triggered by EBV infection, including splenomegaly, hepatitis, hemophagocytic syndrome colitis Splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, defective lymphocyte apoptosis.
1 (continued) Normal Normal Normal Normal Circulating B cell Circulating T cell High IgD levels Normal Serum Ig Inheritance AR Recurrent fever; serositis and inflammation responsive to colchicine; predisposes to vasculitis and inflammatory bowel disease; decreased production of pyrin permits ASC-induced IL-1 processing and inflammation following subclinical serosal injury; macrophage apoptosis decreased; mature granulocytes; cytokine-activated monocytes are affected AR Periodic fever and leukocytosis with high IgD levels, mevalonate kinase deficiency affecting cholesterol synthesis; atherogenesis of disease is unclear Associated features Mutations in MVK Mutations in MEFV Genetic defect/presumed pathogenesis 38 A.