Primary immunodeficiency states are heterogenous group of disorders that occur when there is an impairment of humoral or cell-mediated immunity in the absence of any recognized precipitating cause such as drug therapy or infective agent such as human immunodeficiency virus (HIV).
The majority are diagnosed in children under the age of one, although milder forms may not be recognized until adulthood.
They 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. Over 260 conditions may exist 3.
Only some of the more recognized ones are listed below.
T-cell (cellular) immunodeficiency
B-cell (antibody-mediated) immunodeficiency
- common variable immune deficiency
- specific antibody deficiency
- IgG subclass deficiency
- common variable hypogammaglobulinemia
IgA deficiency - considered most common 2
- selective IgA deficiency
- X-linked hypogammaglobulinemia
- panhypogammaglobulinemia (ring 18 chromosome)
- Wiskott-Aldrich syndrome
- ataxia telangiectasia
- DiGeorge syndrome
- SCID (severe combined)
- T- , B+
- γc deficiency
- JAK3 deficiency
- T- , B-
- ADA deficiency
- RAG 1/2 deficiency
Disorders of innate immunity
- 1. Obregon RG, Lynch DA, Kaske T, Newell JD, Kirkpatrick CH. Radiologic findings of adult primary immunodeficiency disorders. Contribution of CT. (1994) Chest. 106 (2): 490-5. Pubmed
- 2. McCusker C, Warrington R. Primary immunodeficiency. (2011) Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology. 7 Suppl 1: S11. doi:10.1186/1710-1492-7-S1-S11 - Pubmed
- 3. Starr SP. Immunology Update: Primary Immunodeficiency Diseases. (2016) FP essentials. 450: 35-53. Pubmed