immunodeficiency; immunodeficiency syndrome
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Etiology
- humoral immune dysfunction
- cellular immune dysfunction
- mixed cellular & humoral immune dysfunction
- DiGeorge syndrome
- Griscelli syndrome
- LFA1 immunodeficiency disease
- recurrent invasive pneumococcal disease
- IRAK4 deficiency
- immunosuppression
- adult-onset congenital immunodeficiency syndromes[10]
Epidemiology
- prevalence of primary immunodeficiency is 1 in 1000[13]
Pathology
- Cellular immunologic dysfunction
- associated conditions
- organ & bone marrow transplant patients
- especially with severe mucositis
- AIDS patients
- therapy with glucocorticoids or cytotoxic agents
- lymphocytic neoplasms
- organ & bone marrow transplant patients
- characteristic pathogens:
- viruses
- bacteria
- fungi
- protozoa
- Humoral immune dysfunction
- associated conditions
- characteristic pathogens (recurrent infections)
- Neutrophil disorder
- chronic granulomatous disease
- invasive skin infections ...
- Complement deficiency
- infections with Neisseria sp, especially N gonorrhoeae
Genetics
- > 400 genetic defects cause primary immunodeficiency[13]
Laboratory
Complications
- infections
- noninfectious complications[13]
- 43% of mortality
- allergy
- autoimmunity &/or inflammation in 1/3 of patients
- cancer (7% of patients & 25% of mortality)[13]
Management
- pneumococcal vaccination of all immunodeficient children 6-18 years of age with PCV13 (Prevnar) regardless of prior vaccination with pneumococcal polysaccharide vaccine[9]
More general terms
More specific terms
- asplenism
- cellular immune dysfunction
- DiGeorge syndrome; velocardiofacial syndrome; pharyngeal pouch syndrome
- dysgammaglobulinemia
- Griscelli syndrome
- humoral immune dysfunction
- hypogammaglobulinemia; immunoglobulin deficiency
- immunosuppression
- IRAK4 deficiency
- isolated immunodeficiency; pure immunodeficiency; immunodeficiency without anhidrotic ectodermal dysplasia
- LFA-1 immunodeficiency disease
- mixed cellular & humoral immune dysfunction
- recurrent invasive pneumococcal disease
References
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 11, 14 American College of Physicians, Philadelphia 1998, 2006
- ↑ 2.0 2.1 ARUP Consult: Immunodeficiency, Innate System, TLR-Signaling Defects The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/immunodeficiency-tlr-signaling-defects
Immunodeficiency Evaluation for Chronic Infections in Adults and Older Children Testing Algorithm https://arupconsult.com/algorithm/immunodeficiency-evaluation-chronic-infections-adults-and-older-children-testing-algorithm
Immunodeficiency Evaluation for Chronic Infections in Infants and Children Testing Algorithm https://arupconsult.com/algorithm/immunodeficiency-evaluation-chronic-infections-infants-and-children-testing-algorithm
ARUP consult: Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication. https://arupconsult.com/ati/Primary-Antibody-Deficiency-Panel - ↑ Maarschalk-Ellerbroek LJ, Hoepelman IM, Ellerbroek PM. Immunoglobulin treatment in primary antibody deficiency. Int J Antimicrob Agents. 2011 May;37(5):396-404. PMID: https://www.ncbi.nlm.nih.gov/pubmed/21276714
- ↑ Morimoto Y, Routes JM. Immunodeficiency overview. Prim Care. 2008 Mar;35(1):159-73 PMID: https://www.ncbi.nlm.nih.gov/pubmed/18206723
- ↑ Nelson KS, Lewis DB. Adult-onset presentations of genetic immunodeficiencies: genes can throw slow curves. Curr Opin Infect Dis. 2010 Aug;23(4):359-64 PMID: https://www.ncbi.nlm.nih.gov/pubmed/2058167
- ↑ Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010 Feb;125(2 Suppl 2):S182-94 PMID: https://www.ncbi.nlm.nih.gov/pubmed/20042228
- ↑ Oliveira JB, Fleisher TA. Laboratory evaluation of primary immunodeficiencies. J Allergy Clin Immunol. 2010 Feb;125(2 Suppl 2):S297-305. PMID: https://www.ncbi.nlm.nih.gov/pubmed/20042230
- ↑ Wood P; UK Primary Immunodeficiency Network. Primary antibody deficiencies: recognition, clinical diagnosis and referral of patients. Clin Med. 2009 Dec;9(6):595-9. PMID: https://www.ncbi.nlm.nih.gov/pubmed/20095309
- ↑ 9.0 9.1 Centers for Disease Control and Prevention (CDC) Use of 13-Valent Pneumococcal Conjugate Vaccine and 23-Valent Pneumococcal Polysaccharide Vaccine Among Children Aged 6-18 Years with Immunocompromising Conditions: Recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR. June 28, 2013 / 62(25);521-524 http://www.cdc.gov/mmwr/preview/mmwrhtml/mm6225a3.htm
- ↑ 10.0 10.1 Rothaus C A Man with Respiratory Failure Now@NEJM. Oct 16, 2015 http://blogs.nejm.org/now/index.php/a-man-with-respiratory-failure/2015/10/16/
- ↑ Uzzaman A, Fuleihan RL. Chapter 27: Approach to primary immunodeficiency. Allergy Asthma Proc. 2012 May-Jun;33 Suppl 1:S91-5. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/22794700
- ↑ Rubin LG, Levin MJ, Ljungman P et al for the Infectious Diseases Society of America. 2013 IDSA clinical practice guideline for vaccination of the immunocompromised host. Clin Infect Dis. 2014 Feb;58(3):309-18. PMID: https://www.ncbi.nlm.nih.gov/pubmed/24421306 Free Article
- ↑ 13.0 13.1 13.2 13.3 13.4 Alligon M et al. An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years. J Allergy Clin Immunol 2022 Jun; 149:2116-2125 PMID: https://www.ncbi.nlm.nih.gov/pubmed/35031273 https://www.jacionline.org/article/S0091-6749(22)00039-2/fulltext
- ↑ National Institute of Allergy and Infectious Diseases (NIAID) Overview of the Immune System https://www.niaid.nih.gov/research/immune-system-overview