Primary Immunodeficiencies

Primarily Cellular Immunodeficiency:

• Absent CD8+ T cells
• Adenosine deaminase (ADA) defect
• Bare lymphocyte syndrome (MHC defect)
• Cartliage-hair hypoplasia
• Nezelof syndrome
• Purine nucleoside phosphorylase (PNP) defect
• Reticular dysgenesis
• Swiss-type autosomal recessive SCID
• X-linked recessive SCID

Primarily Humoral Immunodeficiency:

• Common variable immunodeficiency
• Familial erythrophagocytic lymphohistiocytosis
• Hyper-IgM syndrome
• IgA deficiency
• IgM deficiency
• Omenn syndrome
• Transient hypogammaglobulinaemia of infancy
• X-linked agammaglobulinaemia

Complement Defects:

• Hereditary angioneurotic oedema
• Isolated complement defects
• Leiner syndrome

Phagocytic Defects:

• Chediak-Higashi syndrome
• Chronic granulomatous disease
• Cyclic neutropenia
• Hereditary myeloperoxidase defect
• Lazy leukocyte syndrome
• Leukocyte adherence protein defect
• Onychotrichodysplasia & neutropenia
• Tuftsin defect

Immune Defects With Other Abnormalities:

• Ataxia telangiectasia
• Chronic mucocutaneous candidiasis
• DiGeorge syndrome
• Hyper-IgE syndrome
• Immunodeficiency with thymoma
• Wiskott-Aldrich syndrome

Tags: Immunodeficiency - Primary Immunodeficiency
Posted by Medicalchemy
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