Albinism immunodeficiency

Below you will find more information about Albinism immunodeficiency from Medigest. If you believe that you are suffering from any of the symptoms of Albinism immunodeficiency it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Albinism immunodeficiency and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Albinism immunodeficiency comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Albinism immunodeficiency is an unusual persistent disorder that involves multiple systems of the body and occurs from an alteration in the lysosomal trafficking regulator gene, LYST. Because of the destruction of lysosome degranulation with phagosomes phagocytosed bacteria are not damaged by the lysosome's enzymes. Additionally, emission of lytic secretory granules in the cytotoxic T cells is also distressed. Not only doe sit happen to humans but also to cattle, blue Persian cats, white tigers and orcas.

Symptoms and Signs

ò Light sensitivity ò Changing nystagmus upon light exposure ò Weakness ò Fever ò Cerebellar tremor ò Loss of coordination ò Paralysis/immobility ò Progressive peripheral neuropathy ò Enlarged/swollen liver ò Anemia ò Low blood platelet level ò Decreased level of leukocytes in blood ò Decreased level of platelets in blood ò Easy bruising ò Excessive/too much bleeding tendency ò Retarded growth

Complications

ò Death because of lymphoma and hemorrhage ò Death because of infection ò Lymphoma ò Leukemia

Clinical Features

There are numerous signs of Albinism immunodeficiency though neutropenia appear to be the most usual. Albinism immunodeficiency is also related to oculocutaneous albinism. Patient who have oculocutaneous albinism are also prone to infections like Staph Aureus.

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