**6. Diagnosis**

WAS is an X-linked disease presented in males, with a lack of clinical symptoms in female carriers. Also, a deleterious mutation of the paternally derived X chromosome and inactivation of the maternally derived X chromosome lead to WAS in females, which is rare [30]. The diagnosis of WAS should be conducted in any male appearing with thrombocytopenia, eczema, recurrent respiratory infections, autoimmunity, etc (**Table 2**). Clinical findings may or may not be present during the course of the disease. Therefore, Because of evolution in clinical, physical, and laboratory findings, there is a dire need for Reassessment over time [5].


**187**

may be required.

*Wiskott-Aldrich Syndrome*

**7. Prognosis**

HSCT is >80% [31].

**8.1 Intravenous Immunoglobulin therapy**

**8. Treatment**

*DOI: http://dx.doi.org/10.5772/intechopen.97220*

Despite the broad spectrum of clinical features, there is a considerable association between genotype and phenotype [9]. Mutations give rise to absent WASp expression and residual WASp expression are related to classic syndrome and XLT phenotype respectively. Also, gain-of-function mutations in the WAS gene result in XLN [31]. Interestingly, the patient phenotype may undergo genetic reversion, a selective advantage that can produce hematopoietic cells with normal WASP expression [32]. Screening for WASP mutations can be accomplished by flow cytometry using a suitable anti-WASP antibody. With this method, patients with expression of mutated WASP are likely to be miss. However, scrutinizing Sequence analysis of the WASP gene is essential to establishing a final diagnosis. It is speculated that the combina-

The prognosis of X-linked thrombocytopenia has got a favorable position with a life expectancy close to the normal population [25]. Whereas, Classic Wiskott Aldrich syndrome has a poor prognosis with decreased life expectancy, which can be attributed to recurrent infections, autoimmune disease, and malignancy.

As soon as a diagnosis is confirmed, the patient should be monitored and evaluated in a center with expertise in the management of WAS. It is clear that Without appropriate care and intervention, morbidity and mortality will not be unexpected. In a retrospective research, it has been demonstrated 36% of patients with WAS experienced non-HSCT-associated deaths at a mean age of 8 years. Mainly, these deaths are caused by infection (44%), bleeding (23%), and malignancy (26%) [5]. Many centers that provide look after WAS patients have multifaceted approaches to the care of patients and affected members of family, including genetic counseling, psychosocial support services, and subspecialist support, like transplant immunology, hematology/oncology, communicable disease, and important care. Of note, with appropriate care and timely intervention, WAS patients have an interesting prognosis. As an example, long-term survival following the utilization of allogeneic

Basically, the treatment of Wiskott-Aldrich syndrome depends on supportive care which includes Broad-spectrum antibiotics for bacterial, fungal, or viral infections. Furthermore, platelet supplement, Topical steroids and prevent bleeding, are other treatments. However, a series of controversial treatment are as follows (**Table 3**).

Intravenous immunoglobulin (IVIG) therapy in WAS and XLT patients with significant antibody deficiency has led to efficient results. IVIG should be administered at physiological doses to patients with recurrent infectious complications and low levels of immunoglobulin or abnormal antibody responses [6]. Because of the increasing catabolic rate observed in WAS patients, the dose is higher than other immunodeficiency diseases. Since these people are more likely to bleed, a Subcutaneous injection of the IVIG is recommended [33]. In the presence of autoimmune manifestations, at least intermittently, immunosuppressive therapy

tion of two methods may help to estimate the severity of the disease [7].

Hemorrhage is the main cause of death in these patients [5].

#### **Table 2.**

*Clues to diagnosis of Wiskott–Aldrich syndrome [acc.6].*

#### *Wiskott-Aldrich Syndrome DOI: http://dx.doi.org/10.5772/intechopen.97220*

Despite the broad spectrum of clinical features, there is a considerable association between genotype and phenotype [9]. Mutations give rise to absent WASp expression and residual WASp expression are related to classic syndrome and XLT phenotype respectively. Also, gain-of-function mutations in the WAS gene result in XLN [31].

Interestingly, the patient phenotype may undergo genetic reversion, a selective advantage that can produce hematopoietic cells with normal WASP expression [32]. Screening for WASP mutations can be accomplished by flow cytometry using a suitable anti-WASP antibody. With this method, patients with expression of mutated WASP are likely to be miss. However, scrutinizing Sequence analysis of the WASP gene is essential to establishing a final diagnosis. It is speculated that the combination of two methods may help to estimate the severity of the disease [7].
