[Specific immunity hereditary deficits]

ABSTRACT

Hereditary anomalies of specific immunity include a wide range of different deficits. Some anomalies consist of a predominant deficiency of antibody production such as sex-linked hypogammaglobulinaemia. Other anomalies consist of dissociated deficits of immunity IgA and IgG deficits with raised IgM, isolated serum IgM deficit; IgA deficit, IgG[2] and IgG[4] isotype; deficit or hypogammaglobulinaemia of infancy. Certain deficiencies predominantly affect cell-mediated immunity, such as Di George's syndrome [hypoplastic thymus] or deficit purine nucleoside phosphorylase. Other deficits simultaneously affect humoral immunity and cell-mediated immunity. These are severe immune deficiencies [SID] alymphocytosis with agammaglobulinaemia and B cells present or adenosine desaminase deficiency [A.D.A]. The diagnosis of SID is based on a high susceptibility to infections or graft versus host [GvH] reactions. Treatment consists of bone marrow graft with an HLA identical or semi-identical marrow. Lastly, certain immune deficiencies are associated with other complex anomalies ataxia telanglectasies, Wiskott-Aldrich syndrome, achondroplastic dwarfism, hypopigmentation, chronic mucocutaneous candidiasis, transcobalamine II deficiency. The antenatal diagnosis of immune deficiencies is currently under investigation