History and exam
Key diagnostic factors
common
family history of WAS
Diagnosis may be suspected if there is a family history of thrombocytopenia, bleeding problems, or male infant deaths.
easy bruising and petechiae
Extent depends on degree of thrombocytopenia.
Other diagnostic factors
common
recurrent infections
Most often ear and respiratory infections.
eczema
Variable severity. Often generalized if moderate or severe.[Figure caption and citation for the preceding image starts]: Eczema and bleeding in Wiskott-Aldrich syndromeFrom the collection of S. Burns and A. Thrasher; used with consent given by parents [Citation ends].
bruises and petechiae
Petechiae or bleeding often seen at sites of excoriation.
lymphadenopathy
May be present, particularly if skin is inflamed.
perforated tympanic membranes
Associated with past and current infections.
uncommon
serious bleeding
Can be spontaneous or posttraumatic, particularly mucosal bleeding or gastrointestinal or intraventricular hemorrhage.
serious/life-threatening infection
Can be any site.
autoimmunity
Wide variety of autoimmune syndromes possible. Generally occurs later in the disease. May affect 26% to 72% of individuals at some point.[17]
Risk factors
strong
maternal WAS gene mutation carrier
WAS is inherited in an X-linked manner.
male sex
If the mother is a carrier of a WAS mutation, the chance of transmitting the mutation is 50% in each pregnancy; males who inherit the mutation will be affected, while females who inherit the mutation will be carriers; all males with the mutation will pass it on to all of their daughters and none of their sons.
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