第二章 B细胞与抗体-B淋巴细胞的发育和抗体的生成.ppt

Bruton tyrosine kinase, Btk（酪氨酸激酶） XLA Btk gene mutation Pro B cell Pre B cell sIgM Bruton’s tyrosine kinase, Btk （酪氨酸激酶） Absent B cells/plasma cells No Ig secretion Normal pro-B cells and T cells Bruton agammaglobulinemia. This patient presented with recurrent otitis (耳炎) and areas of cellulitis （蜂窝织炎） in the diaper area. Pseudomonas aeruginosa and Staphylococcus aureus were isolated from the skin lesions. Autoimmune hemolytic anemia and autoimmune neutropenia （中性粒细胞减少症） were confirmed by the presence of autoantibodies. The patient has a mutation on exon 15, A504T, which changed an asparagine （天冬氨酸） residue to a valine（缬氨酸） residue. 2. Common variable immunodeficiency (CVID) （普通变异型免疫缺陷病） Plasma cell T cells dysfunction ??? No isotype switching IgG↓↓ IgA↓↓ IgM↓ Endoscopic imaging of the duodenum（十二指肠） shows multiple prominent nodules 3–5 mm in size, consistent with nodular lymphoid hyperplasia Intravenous Immunoglobulin (IVIG) IVIG生产设备 3. 选择性IgA缺陷（selective IgA deficiency） Most common immunoglobulin deficiency Causes:unclear Symptoms: Chronic sinopulmonary infection Allergy GI tract diseases Autoimmune diseases， including SLE, RA Diagnosis: Serum IgA level: lower than 5mg/dl Treatment : NO IVIG 4. X-linked hyper IgM syndrome（XLHM） CD40L gene mutation in X chromosome Class switching failure of IgG, IgA and IgE H chain The level of IgG and IgA in serum is very low, and patients are subject to recurrent bacterial infections. IgM J 链 X-linked hyperimmunoglobulin M syndrome Pre B cell sIgM T T T T T XHLM CD40L Gene defect Mature B cell IgG/IgA/IgM /IgD/IgE XLHM 患 者 淋 巴 小 结 的 特 点 Normal lymph node (germinal center) XLHM lymph node B cell can not be activated Memory B cell B cell apoptosis IgM Na?ve B cel IgM IgM No expression of CD40L on the T cell Expression of CD40L on the T cell 多发性骨髓瘤(multiple myeloma) 浆细胞瘤 临床表现：crab C: calcium (elevated) R: renal failure A: anemia B: bone lesion 诊断： M protein (monoclonal protein) Bone marrow