先天性免疫力缺乏症Congenital Immunodeficiencies

缺陷和疾病名稱

缺陷

分生缺陷

臨床特徵

B
細胞

X-linked
(Bruton’s)

無B
細胞

Mutation tyrosine kinase

Pyogenic infections

Selective IgA

極低IgA

Failure of heavy-chain gene switching

Sinus and lung infections

T
細胞

Thymic aplasia
(DiGeorge’s)

無T
細胞

Defective development of pharyngeal pouches

Viral, fungal, and protozoan infections

B+T細胞

Severe combined immunodeficiency (SCID)

B+T
細胞皆無功能

Either defective IL-2 receptor, absence of MHC II proteins, or ADA or PNP deficiency

Bacterial, viral, fungal, and protozoan infections

補體

Hereditary angioedema

C1蛋白酶抑制缺乏

Too much C3a, C4a, and C5a generated

Edema

C3(b)不足

unknown

Pyrogenic infections

C6, 7, 8不足

吞噬細胞

Chronic granulomatous disease

殺菌能力喪失

Deficient NADPH oxidase activity

Pyrogenic infections

 

congenital_immunodeficiencies.PNG


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