Antibody Deficiencies

Antibodies are proteins made by specialized white blood cells: B cells (B lymphocytes) and plasma cells. The function of antibodies is to recognise infectious agents so that they can be blocked. Examples of antibody deficiencies are:

Common Variable Immune Deficiency (CVID)

Common Variable Immune Deficiency (CVID) is the most common form of antibody deficiency, usually presenting with recurrent chest and sinus infections in childhood or early adulthood, although most cases are diagnosed in adults. Early recognition can prevent bronchiectasis – permanent damage to the lungs. Read More

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X-linked Agammaglobulinaemia (Bruton’s)

X-linked Agammaglobulinaemia can present in infancy, later childhood or adulthood. Infants with this deficiency develop recurrent pus producing infections of the ears, lungs, sinuses and bones and can get infections in the bloodstream and internal organs. They are also susceptible to certain viruses such as hepatitis and polio.

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X-linked or Autosomal Hyper IgM Syndrome

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Selective IgA Deficiency

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IgG Subclass Deficiency and Specific Antibody Deficiency

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Hyper IgE Syndrome

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Whim Syndrome

Whim is a very rare PID. Whim is the acronym for Warts, Hypogammaglobulinemia, Immunodeficieny, Myelokathexis. It is a genetic syndrome with dominant autosomal inheritance characterized by chronic neutropenia associated with bone marrow hypercellularity (myelokathexis).

Resources: These are links to a few sites with Whim Syndrome Information

  • Whim Syndrome Orphanet
  • Whim Syndrome Rare Connect
  • Whim Syndrome GARD (genetic and Rare Diseases) Information Centre
  • Whim Syndrome GDF (genetic Diseases Foundation)
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