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2022, Number 2

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Rev Cubana Pediatr 2022; 94 (2)

Patient diagnosed with Wiskott Aldrich and presence of a new mutation

Cedeño VLF, Milian HEJ, Anzules GJB, Veliz ZI

Language: Spanish
References: 16
Page: 1-9
PDF size: 363.16 Kb.


ABSTRACT

Introduction: Wiskott Aldrich syndrome is a primary immunodeficiency, rarely inherited in a recessive way and linked to the X chromosome. It is associated with variable clinical phenotypes that correlate with the type of mutation present in the Wiskott Aldrich syndrome protein.
Objective: Examine the case of a patient diagnosed with Wiskott Aldrich and presence of a mutation not described above.
Case presentation: Male patient whose symptoms began at three months of age, with recurrent respiratory infections, purpuric hemorrhagic lesions such as ecchymosis, eczema and platelettopenia. The diagnosis was confirmed one year of after the symptoms onset with the detection of a mutation not previously described, located in codon 88 of the Wiskott Aldrich syndrome protein (p. Y88X; c.264C>G), associated with a classical variant.
Conclusions: Early identification, diagnosis and stratification of the phenotype is essential to reduce unfavorable events and complications of the condition. The genetic study is the mean of definitive diagnostic confirmation for the syndrome, which allows to apply the most appropriate therapeutic protocol for this type of immunodeficiency.


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