Disease Information for Nezelof syndrome (Combined Immune deficiency var)

SCID/A group of disorders characterized by congenital and usually hereditary deficiency of both B-cell and T-cell systems, lymphoid aplasia, and thymic dysplasia; subsets include X-linked severe combined immunodeficiency or scids, ADA or adenosine deaminase deficiency, and Nezelof syndrome which is "combined immunodficiency with Igs [non-functioning Igs];-------------------------------------------------Nezelof"s Syndrome; Alymphocytosis, Pure; Combined Immunodeficiency with Immunoglobulins; Immune Defect due to Absence of Thymus; Immunodeficiency Cellular, with Abnormal Immunoglobulin Synthesis; Severe Combined Immunodeficiency, Nezelof Type; T-Lymphocyte Deficiency; Thymic Aplasia, Nezelof"s; Thymic Dysplasia with Normal Immunoglobulins

Disorder Subdivisions: PNP Deficiency; Purine Nucleoside Phosphorylase Deficiency ; Nezelof"s Syndrome is an extremely rare immune deficiency disorder characterized by the impairment of cellular immunity against infections,

especially by those agents that do not normally cause serious illness (opportunistic infections; In cell-mediated immune responses, specialized white blood cells known as T lymphocytes or "killer cells" help B lymphocytes respond to infectious foreign agents that invade the body; Nezelof"s Syndrome may also include some abnormalities in humoral immunity; In this form of immune response, antibodies that are produced by specialized cells (eg, B lymphocytes) circulate in the lymphatic fluid and blood; Antibodies fight off bacteria, viruses, and other foreign substances that threaten the body; B lymphocytes enable the body to produce and maintain circulating antibodies; In a subgroup of people with Nezelof"s Syndrome, immune deficiency may be caused by a lack of the enzyme purine nucleoside Phosphorylase (PNP)-----------[NORD 2005]-------------

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