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Items: 2

1.

Leukocyte adhesion deficiency

A rare autosomal recessive immunodeficiency disorder caused by deficiency of CD18 expression. It is characterized by defects in neutrophil adhesion and bacterial infections. [from NCI]

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

Leukocyte adhesion deficiency - type 1

A rare immunodeficiency with an autosomal recessive pattern of inheritance. It is caused by mutation in the ITGB2 gene on chromosome 21 which codes for the beta subunit of beta-2 integrin (CD18). The mutation results in significantly reduced or absent expression of CD18 on the surface of leukocytes which impairs their ability to migrate and interact with antigens. Initial clinical signs include omphalitis and delayed separation of the umbilical cord. The clinical course is marked by recurrent bacterial and fungal infection without pus formation. In instances where there is < 1% expression of CD18, prognosis is dismal with a high likelihood for life-threatening infection within the first year of life. [from NCI]

MedGen UID:
98310
Concept ID:
C0398738
Disease or Syndrome

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