By Asghar Aghamohammadi M.D., Ph.D. (auth.), Asghar Aghamohammadi, Nima Rezaei (eds.)
Primary immunodeficiency illnesses (PIDs) are a heterogeneous team of inherited issues characterised by way of diversified defects within the improvement and serve as of the immune process. This e-book goals to extend the scientific expertise and data of working towards clinicians in regards to the analysis and administration of PIDs. on the way to do so target, approximately ninety situations drawn from genuine lifestyles are offered, besides nearly three hundred comparable 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 providing beneficial properties of sufferers with PIDs and at the required extra research and administration. all of the numbered instances is by means of the questions, their solutions, and extra dialogue. each one query makes a speciality of a selected point of the PID into account, and the themes lined comprise medical analysis, laboratory findings, molecular mechanisms, and therapy.
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Additional info for Clinical Cases in Primary Immunodeficiency Diseases: A Problem-Solving Approach
1 (continued) Circulating B cell Normal (swItched and nonswItched memory B cells are reduced; BAFF level increased) Normal, but Normal Multiple cytokinesignaling defects decreased decreased Circulating T cell Normal Th-17 cells decreased Elevated IgE, low IgM Elevated IgE Serum Ig Elevated IgE; specific antibody production decreased Associated features Distinctive facial features (broad nasal bridge), eczema, osteoporosis and fractures, scoliosis, failure/delay of shedding primary teeth, hyperextensible joints, bacterial infections (skin and pulmonary abscesses, pneumatoceles) due to Staphylococcus aureus (candidiasis) Susceptibility to intracellular bacteria (Mycobacteria, Salmonella), fungi, and viruses Recurrent respiratory infections; extensive cutaneous viral and staphylococcal infections, increased risk of cancer, severe atopy with anaphylaxis AR AR Inheritance AD often de novo defect Mutation in DOCK8 Mutation in TYK2 Genetic defect/presumed pathogenesis Dominant-negative heterozygous mutations in STAT3 14 A.
Defective lymphocyte apoptosis Adenopathies, splenomegaly, recurrent bacterial and viral infections. defective lymphocyte apoptosis and activation, hypogammaglobulinemia Adenopathies, splenomegaly, leukemia, lymphoma, defective lymphocyte apoptosis following IL-2 withdrawal Sporadic AD AD Inheritance AD AR Somatic mutations in NRAS, encoding a GTP-binding protein with diverse signaling functions; activating mutations impair mitochondrial apoptosis Mutations in CASP8, intracellular apoptosis and activation pathways Mutations in CASP10, intracellular apoptosis pathway Genetic defect/presumed pathogenesis Mutations in TNFSF6, ligand for CD95 apoptosis receptor 24 A.
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.