Mar 13, 2011

List of Some Primary Immunodeficiencies

The World Health Organization (WHO) recognizes over 150 primary immunodeficiencies including X-Linked Agammaglobulinemia (Bruton's Disease), Common Variable Immunodeficiency (also called Hypogammaglobulinemia), Selective IgA Deficiency, and Severe Combined Immunodeficiency (boy-in-the-bubble disease).

Some disorders such as Selective IgA Deficiency can be quite common, occurring as often as 1/500 to 1/1000 individuals. Others may be as rare as 1 individual affected per million. Untreated primary immune deficiencies are characterized by frequent, some times life-threatening infections and debilitating illnesses.

Because of advances in medical understanding and treatment of primary immunodeficiency diseases, many patients who in the past would not have survived childhood are now able to live nearly normal lives. Most primary immunodeficient patients require life long therapies including intravenous gammaglobulin infusion, aggressive antibiotic therapies, or bone marrow transplantation.

Five classes of primary immunodeficiency diseases have been identified:
B-cell (B-lymphocyte) disorders (such as X-linked agammaglobulinemia, common variable immunodeficiency, and selective Immunoglobulin A deficiency);

Combined T- and B-lymphocyte disorders (such as severe combined immunodeficiency, i.e. SCID, the Wiskott-Aldrich syndrome and ataxia telangiectasia, the DiGeorge Syndrome and chronic mucocutaneous candidiasis),

Phagocytic disorders (such as chronic granulomatous disease) and Complement disorders (such as C2 deficiency and C3 deficiency).

Diseases with recurrent fever and inflammatory manifestations.

Secondary immunodeficiencies result from environmental factors, some therapies etc. One example is the Acquired Immune Deficiency Syndrome (AIDS), which is caused by the HIV virus. Other immunodeficiency diseases occur or are acquired as the result of having cancer, severe nutritional disorders, burns, infections, exposure to radiation or organ transplantation.

This is a list of primary immunodeficiencies. It is by far not complete as WHO lists over 150 different diagnoses.

B-Cell Deficiencies

  • X-LINKED AGAMMAGLOBULINAEMIA, (BRUTON´S DISEASE), (XLA)
  • COMMON VARIABLE IMMUNODEFICIENCY, (CVID)
  • SELECTIVE IgA DEFICIENCY
  • IgG SUBCLASS DEFICIENCY
  • IMMUNODEFICIENCY WITH THYMOMA, (GOOD SYNDROME)
  • TRANSIENT HYPOAGAMMAGLOBULINAEMIA OF INFANCY, (THI)
  • HYPER  IgM SYNDROME.- AR (AID deficiency)

T-Cell And Combined T- And B-Cell Deficiencies

  • SEVERE COMBINED IMMUNODEFICIENCY, (SCID, several forms)
  • CATCH 22 SYNDROME, (DIGEORGE´S SYNDROM), (DGS)
  • X-LINKED LYMPHOPROLIFERATIVE SYNDROME, (DUNCAN´S SYNDROME)
  • HYPER IgM SYNDROME –XL (CD40 LIGAND DEFECIENCY)
  • MHC CLASS II DEFICIENCY, (BARE LYMPHOCYTES)
  • ATAXIA-TELEANGIECTASIA, (LOUIS BAR´ S SYNDROME)
  • WISKOTT - ALDRICH´ S SYNDROME
  • IPEX
  • HYPER IgM SYNDROMES, AR- forms
  • CHRONIC MUCOCUTANEOUS CANDIDIASIS

Phagocyte Deficiencies

  • CHRONIC GRANULOMATOUS DISEASE, (CDG)
  • INTERFERON g  / INTERLEUKIN 12, and receptors,  DEFICIENCIES
  • FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, (FHL)
  • CONGENITAL AGRANULOCYTOUSIS, (KOSTMANN´S SYNDROME)
  • CYCLIC NEUTROPENIA
  • LEUCOCYTE ADHESION DEFICIENCY, (LAD)
  • CHÉDIAK-HIGASHI’S SYNDROME
  • GRISCELLI’S SYNDROME, (GS)
  • HYPER IgE SYNDROME, (HIES)

Complement Deficiencies

  • PROPERDIN DEFICIENCY
  • MANNAN-BINDING LECTIN DEFICIENCY, (MBL)
  • HEREDITARY ANGIOEDEMA, (HAE)
  • And Deficiencies of all other complements

Periodic Fevers

  • TRAPS (TUMOR NECROTIC FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME)
  • FAMILIAL MEDITERRANEAN FEVER, (FMF)
  • HYPER - IgD SYNDROME, (HIDS)
  • PFAPA and others



World PI Week
Donations
banner2
IPOPI would be grateful for any support to the important work for primary immunodeficiencies.

Read all

Contact
Executive Director: Johan Prevot
Email: johan@ipopi.org
Tel/Fax: +351 21 407 5720
UK office
Firside Main Road Downderry
Cornwall PL11 3LE
United Kingdom

Tel: +44 1503 250 668
Fax: +44 1503 250 961
E-mail: info@ipopi.org
IPOPI is a charity registered in the UK.
Registration No. 1058005