Diagnostic criteria for Wiskott-Aldrich syndrome^[1]

Definitive diagnosis*

Male patient with congenital thrombocytopenia (less than 70,000 platelets/mm³), small platelets, and at least one of the following:

Deleterious mutation in the WAS gene (other than the mutation that causes XLN)

Absent WAS messenger RNA (mRNA) on Northern blot analysis of lymphocytes

Absent WAS protein (WASP) in lymphocytes

Maternal male cousins, uncles, or nephews with small platelets and thrombocytopenia

Probable diagnosis*

Male patient with congenital thrombocytopenia (less than 70,000 platelets/mm³), small platelets, and at least one of the following:

Eczema

Abnormal antibody response to polysaccharide antigens

Recurrent bacterial or viral infections

Autoimmune diseases

Lymphoma, leukemia, or other malignancies

Possible diagnosis*

Male patient with thrombocytopenia (less than 70,000 platelets/mm³) and small platelets, or male patient splenectomized for thrombocytopenia, who has at least one of the following:

Eczema

Abnormal antibody response to polysaccharide antigens

Recurrent bacterial or viral infections

Autoimmune diseases

Lymphoma, leukemia, or other malignancies

WAS: Wiskott-Aldrich syndrome; XLN: X-linked neutropenia.
* 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.

Reference:

Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999; 93:190.

Graphic 78822 Version 9.0

خرید پکیج

Diagnostic criteria for Wiskott-Aldrich syndrome[1]

Diagnostic criteria for Wiskott-Aldrich syndrome^[1]