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Condition report · Immunological

Wiskott-Aldrich Syndrome

Conditions caused by loss of the WAS protein or its partner WIP, which leads to small, low platelets with bleeding, eczema, recurrent infections and a raised risk of autoimmunity and lymphoma. Milder WAS changes cause X-linked thrombocytopenia, which also appears in the Inherited Thrombocytopenias report.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

Wiskott-Aldrich syndrome (WAS)

X-linked recessive

Low numbers of small platelets, eczema and combined immunodeficiency in boys caused by changes in WAS.

What a diagnosis changes

Haematopoietic stem cell transplantation or gene therapy can be curative, and early diagnosis guides bleeding precautions, infection prevention and family testing.

Genes analysed

Also known as

eczema thrombocytopenia immunodeficiency syndrome; Imd 2; immunodeficiency 2; WAS; Wiskott Aldrich syndrome; Wiskott-Aldrich syndrome 1; Wiskott-Aldrich syndrome, X-linked recessive

MONDO:0010518OMIM 301000Orphanet 906MedGen 21921

Wiskott-Aldrich syndrome 2 (WIPF1)

Autosomal recessive

A Wiskott-Aldrich-like condition with low platelets, eczema and immunodeficiency caused by changes in both copies of WIPF1.

What a diagnosis changes

Management mirrors classic Wiskott-Aldrich syndrome, including consideration of stem cell transplantation.

Genes analysed

Also known as

WAS2; WIPF1 Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome caused by mutation in WIPF1; Wiskott-Aldrich syndrome type 2

MONDO:0013779OMIM 277970OMIM 614493MedGen 482631

X-linked thrombocytopenia (WAS)

X-linked recessive

A milder WAS-related condition in which low, small platelets are the main feature, with little or no immunodeficiency.

What a diagnosis changes

Knowing the cause avoids misdiagnosis as immune thrombocytopenia and guides bleeding precautions and monitoring.

Genes analysed

Also known as

THC; THC1; thrombocytopenia type 1; thrombocytopenia, X-linked, intermittent, X-linked recessive; thrombocytopenia, X-linked, X-linked recessive; X-linked thrombocytopenia; X-linked thrombocytopenia with normal platelets; XLT

MONDO:0010743OMIM 313900Orphanet 852MedGen 326416

Other immunological conditions

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