KEGG   DISEASE: Primary immunodeficiency disease
Entry
H01725                      Disease                                
Name
Primary immunodeficiency disease
  Subgroup
Disorders of innate immunity [DS:H02525]
Disorders of adaptive immunity [DS:H02526]
Other well-defined immunodeficiency syndromes [DS:H00107]
Description
Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many are associated with single gene defects, whereas others may be polygenic or may represent interactions of genetically determined characteristics with environmental or infectious stresses. There are more than 150 different disorders which have been described till date. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H01725  Primary immunodeficiency disease
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H01725  Primary immunodeficiency disease
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01725  Primary immunodeficiency disease
Pathway
hsa05340  Primary immunodeficiency
Other DBs
ICD-11: 4A00 4A01
ICD-10: D69 D70 D71 D76 D80 D81 D82 D84
MeSH: D000361 D053306 D017074 D053632 D001260 D049932 D564694 D0001816 D006105 D056735 D016553 D014923 D004062
Reference
  Authors
McCusker C, Warrington R
  Title
Primary immunodeficiency.
  Journal
Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
DOI:10.1186/1710-1492-7-S1-S11
Reference
  Authors
Madkaikar M, Mishra A, Ghosh K
  Title
Diagnostic approach to primary immunodeficiency disorders.
  Journal
Indian Pediatr 50:579-86 (2013)
DOI:10.1007/s13312-013-0171-4
Reference
  Authors
Turvey SE, Bonilla FA, Junker AK
  Title
Primary immunodeficiency diseases: a practical guide for clinicians.
  Journal
Postgrad Med J 85:660-6 (2009)
DOI:10.1136/pgmj.2009.080630
Reference
  Authors
Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
  Title
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
  Journal
J Clin Immunol 35:696-726 (2015)
DOI:10.1007/s10875-015-0201-1
Reference
  Authors
Fischer A.
  Title
Human primary immunodeficiency diseases.
  Journal
Immunity 27:835-45 (2007)
DOI:10.1016/j.immuni.2007.11.012
Reference
  Authors
Bonilla FA, Geha RS
  Title
12. Primary immunodeficiency diseases.
  Journal
J Allergy Clin Immunol 111:S571-81 (2003)
DOI:10.1067/mai.2003.86
LinkDB

» Japanese version

DBGET integrated database retrieval system