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List of Some Primary Immunodeficiencies
The World Health Organization (WHO) recognizes some 100 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 more than 100 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)
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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
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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)
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Complement Deficiencies |
- PROPERDIN DEFICIENCY
- MANNAN-BINDING LECTIN DEFICIENCY, (MBL)
- HEREDITARY ANGIOEDEMA, (HAE)
- And Deficiencies of all other complements
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Periodic
Fevers |
- TRAPS (TUMOR NECROTIC FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME)
- FAMILIAL MEDITERRANEAN FEVER, (FMF)
- HYPER - IgD SYNDROME, (HIDS)
- PFAPA and others
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