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genetic immunodeficiencies

Tuesday 19 April 2005

Types

- predominant antibody deficiencies

  • Ig heavy-chain gene deletion
  • kappa-chain deficiency
  • selective deficiencies of IgG subclasses (+/- IgA deficiency)
  • antibody deficiency with normal immunoglobulins
  • common variable immunodeficiency (CVID)
  • IgA deficiency
  • transient hypogammaglobulinemia of infancy

- combined immunodeficiencies

  • severe combined immunodeficiencies (SCIDs)
    • X-linked SCID
    • autosomal SCID
  • ADA deficiency (adenosine deaminase deficiency)
  • PNP deficiency (purine nucleoside phosphorylase deficiency)
  • MHC class II deficiency
  • reticular dysgenesis
  • CD3gamma deficiency
  • CD8 deficiency
  • CD4 deficiency
  • CD7 deficiency
  • IL-2 deficiency
  • multiple cytokine deficiency
  • signal transduction deficiency

- immunodeficiency syndrome-associated phenotypic anomalies

  • Wiskott-Aldrich syndrome
  • ataxia-telangiectasia
  • DiGeorge anomaly

- phagocytic function diseases (defects in phagocytes)(11106721)

  • genetic granulocytic diseases (immune defiencies of neutrophils)
    • chronic granulomatous diseases (CGDs)
      • X-linked chronic granulomatous disease
      • autosomal chronic granulomatous disease

- CD18 deficiency (LFA1 deficiency) (type 1 leukocyte adhesion defect)
- type 2 leukocyte adhesion deffect (GDP mannose conversion to fucose deficiency)

  • neutrophilic G6PD deficiency
  • myeloperoxidase deficiency
  • secondary granule deficiency
  • Schwachman disease deficiency
  • Chediak-Higashi disease

- complement deficiencies

  • C1q deficiency
  • C1r deficiency
  • C4 deficiency
  • C2 deficiency
  • C3 deficiency
  • C5 deficiency
  • C6 deficiency
  • C7 deficiency
  • C8alpha deficiency
  • C8 gamma deficiency
  • C8beta deficiency
  • C9 deficiency
  • Ci inhibitor deficiency
  • factor I deficiency
  • factor H deficiency
  • factor D deficiency
  • properdin deficiency

- immunodeficiency associated with other diseases (secondary immunodeficiencies)

  • Bloom syndrome
  • Fanconi anemia
  • ICF syndrome
  • Nijmegen breakage syndrome
  • Seckel syndrome
  • Xeroderma pigmentosum

- immunodeficiency with chromosomal disease

  • trisomy 21 (Down syndrome)
  • Turner syndrome
  • chromosome 18 rings and deletions

- immunodeficiency with constitutional skeletal diseases

  • short-limbed skeletal dysplasia
  • cartilage-hair dysplasia

- immunodeficiency with generalized growth retardation

  • Schimke immuno-osseous dysplasia
  • immunodeficiency with absent thumbs
  • Dubowitz syndrome
  • growth retardation, facial anomalies and immunodeficiency
  • progeria (Hutchinson-Gilford syndrome)

- immunodeficiency with skin diseases

  • partial albinism
  • dyskeratosis congenita
  • Netherton disease
  • acrodermatitis enteropathica
  • anhidrotic ectodermal dysplasia
  • Papillon-Lefevre syndrome

- immunodeficiency with hereddtary metabolic diseases

  • transcobalamin 2 deficiency
  • methylmalonic acidemia
  • type 1 hereditary orotic aciduria
  • blotin-dependent carboxylase deficiency
  • mannosidosis
  • type 1b glycogen storage disase (GSD1b)

- increased immunoglobulin loss

  • familial hypercatabolism
  • intestinal lymphangiectasias

- miscellaneous

  • Hyper-IgE syndrome
  • chronic mucocutaneous candidiasis
  • congenital hyposplenia and asplenia
  • Ivemark synrome

Variants

- genetic immunodeficiencies with aberrant IgE production

See also

- autosomal dominant primary immunodeficiencies (ADPID)

References

- The French national registry of primary immunodeficiency diseases. CEREDIH: The French PID study group. Clin Immunol. 2010 May;135(2):264-72. PMID: 20399414

- MarĂ³di L, Notarangelo LD. Immunological and genetic bases of new primary immunodeficiencies. Nat Rev Immunol. 2007 Nov;7(11):851-61. Review. PMID: 17960151

- Blomberg KE, Smith CI, Lindvall JM. Gene expression signatures in primary immunodeficiencies: the experience from human disease and mouse models. Curr Mol Med. 2007 Sep;7(6):555-66. PMID: 17896992

- Lim MS, Elenitoba-Johnson KS. The molecular pathology of primary immunodeficiencies. J Mol Diagn. 2004 May;6(2):59-83 . PMID: 15096561

- Lekstrom-Himes JA, Gallin JI. Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med. 2000 Dec 7;343(23):1703-14. PMID: 11106721

- Buckley RH. Primary immunodeficiency diseases due to defects in lymphocytes. N Engl J Med. 2000 Nov 2;343(18):1313-24. PMID: 11058677

- Elenitoba-Johnson KS, Jaffe ES. Lymphoproliferative disorders associated with congenital immunodeficiencies. Semin Diagn Pathol. 1997 Feb;14(1):35-47. PMID: 9044508

- Huber J, Zegers BJ, Schuurman HJ. Pathology of congenital immunodeficiencies. Semin Diagn Pathol. 1992 Feb;9(1):31-62. PMID: 1561487