Leukocyte Adhesion Deficiency, Type I (LAD1)

Leukocyte Adhesion Deficiency, Type I(来自ICD-11)
别称:
Leukocyte Adhesion Deficiency
Leukocyte Adhesion Deficiency 1
Lad1
Leukocyte-Adhesion Deficiency Syndrome
Leukocyte Adhesion Deficiency Type I
Lymphocyte Function-Associated Antigen 1 Immunodeficiency
Congenital Leukocyte Adherence Deficiency
Leukocyte Adhesion Deficiency Syndrome
Leukocyte Adhesion Deficiency Type 1
Lfa1 Immunodeficiency
Lad-I
Lad
Leukocyte Adhesion Molecule Deficiency Type 1
Leucocyte Adhesion Deficiency Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leukocyte Adhesion Deficiency, Type I, also known as leukocyte adhesion deficiency, is related to skin disease and immune deficiency disease. An important gene associated with Leukocyte Adhesion Deficiency, Type I is ITGB2 (Integrin Subunit Beta 2), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Fludarabine and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and neutrophil, and related phenotypes are recurrent bacterial infections and abnormality of neutrophil physiology
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基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
AR
Infant
1-9/1000000
30
272
80

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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