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Items: 3

1.

Leukocyte adhesion deficiency

Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. [from ORDO]

MedGen UID:
124419
Concept ID:
C0272187
Disease or Syndrome
2.

Leukocyte adhesion deficiency 1

Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression. Genetic Heterogeneity of Leukocyte Adhesion Deficiency Also see LAD2 (266265), caused by mutation in the SLC35C1 gene (605881), and LAD3 (612840), caused by mutation in the FERMT3 gene (607901). [from OMIM]

MedGen UID:
98310
Concept ID:
C0398738
Disease or Syndrome
3.

Global developmental delay with or without impaired intellectual development

MedGen UID:
1675328
Concept ID:
C5193032
Disease or Syndrome
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