Leukocyte Adhesion Deficiency, Type I (LAD1)

Alias:

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

Related ID：

MALACARDS：LKC009

OMIM：116920

MESH：D018370