Diagnostic criteria for leukocyte-adhesion defect type I

Definitive diagnosis*

A male or female patient with decreased intensity of expression of CD18 on neutrophils (less than 5% of normal) and at least one of the following:

1. Mutation in the beta-2 integrin gene.

2. Absence of beta-2 integrin mRNA in leukocytes.

Probable diagnosis*

A male or female patient with defective expression of CD18 on leukocytes (less than 5% of normal) and all of the following:

1. Recurrent or persistent bacterial or fungal infections.

2. Leukocytosis (WBC greater than 25,000/mm³).

3. Delayed separation of the umbilical cord and/or defective wound healing.

Possible diagnosis*

Infant with marked leukocytosis (WBC greater than 25,000/mm³) and one of the following:

1. Recurrent bacterial infections.

2. Severe deep-seated infection.

3. Absence of pus at sites of infection.

CD18: common beta-2 subunit of the beta-2 leukocyte integrins; WBC: white blood cell.
* Patients with a definitive or probable diagnosis are assumed to have a greater than 98 and 85% probability, respectively, that in 20 years they will still have the same diagnosis. Patients with a possible diagnosis are those that have some but not all of the characteristic clinical or laboratory findings of a particular disorder.

From Conley ME, Notarangelo LD, Etzioni A. Clin Immunol 1999; 93:190.

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Diagnostic criteria for leukocyte-adhesion defect type I