Medical management of immunodeficiency
- Francisco A Bonilla, MD, PhD
Francisco A Bonilla, MD, PhD
- Section Editor — Immunology and Immunodeficiency
- Associate Professor of Pediatrics
- Harvard Medical School
- Section Editor
- E Richard Stiehm, MD
E Richard Stiehm, MD
- Editor-in-Chief — Allergy and Immunology
- Section Editor — Immunology and Immunodeficiency
- Distinguished Research Professor of Pediatrics
- David Geffen School of Medicine at UCLA
The predominant clinical consequence of immunodeficiency is an increased frequency and severity of infection. As understanding of the molecular defects underlying many of these disorders continues to expand, a number of new medical therapies have provided dramatic improvements in life expectancy and in the quality of life for immunodeficient and immunosuppressed subjects.
The use of medical therapies, including immune globulin, vaccination, and prophylactic antibiotics in the treatment of immunodeficiency will be reviewed here. Practical measures for avoiding infection are also discussed. The suggestions in this topic review are consistent with practice parameters for the management of primary immunodeficiency .
The role of hematopoietic cell transplantation (HCT) and the possible role of gene therapy in the treatment of primary immunodeficiencies, and additional information regarding therapies for specific disorders are discussed separately. (See "Hematopoietic cell transplantation for primary immunodeficiency" and "Gene therapy for primary immunodeficiency" and "Severe combined immunodeficiency (SCID): An overview" and "Primary humoral immunodeficiencies: An overview" and "Primary disorders of phagocytic function: An overview" and "Inherited disorders of the complement system".)
Early detection and diagnosis of primary immunodeficiency improves clinical outcomes. There are various measures that can help identify immunodeficiencies promptly.
Detecting severe primary immunodeficiencies in neonates — Genetic testing is available for a growing number of primary immunodeficiencies and neonatal screening for various forms of severe combined immunodeficiency (SCID) is available in some states in the United States and some other countries [2-4]. Identification of neonates with SCID is particularly critical and newborns known to have, or who are at high risk for SCID, should be isolated and carefully managed from birth. Neonatal screening, initial testing, isolation, and perinatal management for SCID are reviewed in more detail elsewhere. (See "Severe combined immunodeficiency (SCID): An overview", section on 'Protective measures' and "Severe combined immunodeficiency (SCID): An overview", section on 'Newborn screening'.)
- Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol 2015; 136:1186.
- A world database of laboratories performing genetic testing for immunodeficiencies may be found at: http://bioinf.uta.fi/IDdiagnostics/index_IDs.php?page=index/service (Accessed on December 17, 2008).
- Baker MW, Grossman WJ, Laessig RH, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol 2009; 124:522.
- Contact information for laboratories that provide genetic testing services is available through the GeneTests website: www.geneclinics.org (Accessed on December 17, 2008).
- Dadi HK, Simon AJ, Roifman CM. Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med 2003; 349:1821.
- Kalman L, Lindegren ML, Kobrynski L, et al. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genet Med 2004; 6:16.
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- Griffith LM, Cowan MJ, Kohn DB, et al. Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. J Allergy Clin Immunol 2008; 122:1087.
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- Filipovich A. Hematopoietic cell transplantation for correction of primary immunodeficiencies. Bone Marrow Transplant 2008; 42 Suppl 1:S49.
- Fischer A, Landais P, Friedrich W, et al. European experience of bone-marrow transplantation for severe combined immunodeficiency. Lancet 1990; 336:850.
- Buckley RH. A historical review of bone marrow transplantation for immunodeficiencies. J Allergy Clin Immunol 2004; 113:793.
- Buckley RH, Schiff SE, Schiff RI, et al. Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency. Semin Hematol 1993; 30:92.
- Available through the Primary Immunodeficiency Resource Center. www.info4pi.org (Accessed on June 10, 2010).
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- Snydman DR, Werner BG, Dougherty NN, et al. Cytomegalovirus immune globulin prophylaxis in liver transplantation. A randomized, double-blind, placebo-controlled trial. Ann Intern Med 1993; 119:984.
- Recommendations of the International Task Force for Disease Eradication. MMWR Recomm Rep 1993; 42:1.
- van Assen S, Holvast A, Telgt DS, et al. Patients with humoral primary immunodeficiency do not develop protective anti-influenza antibody titers after vaccination with trivalent subunit influenza vaccine. Clin Immunol 2010; 136:228.
- National Center for Immunization and Respiratory Diseases. General recommendations on immunization --- recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm Rep 2011; 60:1.
- Bitnun A, Shannon P, Durward A, et al. Measles inclusion-body encephalitis caused by the vaccine strain of measles virus. Clin Infect Dis 1999; 29:855.
- Ghaffar F, Carrick K, Rogers BB, et al. Disseminated infection with varicella-zoster virus vaccine strain presenting as hepatitis in a child with adenosine deaminase deficiency. Pediatr Infect Dis J 2000; 19:764.
- Hidalgo S, García Erro M, Cisterna D, Freire MC. Paralytic poliomyelitis caused by a vaccine-derived polio virus in an antibody-deficient Argentinean child. Pediatr Infect Dis J 2003; 22:570.
- Levy O, Orange JS, Hibberd P, et al. Disseminated varicella infection due to the vaccine strain of varicella-zoster virus, in a patient with a novel deficiency in natural killer T cells. J Infect Dis 2003; 188:948.
- Yong PL, Boyle J, Ballow M, et al. Use of intravenous immunoglobulin and adjunctive therapies in the treatment of primary immunodeficiencies: A working group report of and study by the Primary Immunodeficiency Committee of the American Academy of Allergy Asthma and Immunology. Clin Immunol 2010; 135:255.
- Herrod HG. Management of the patient with IgG subclass deficiency and/or selective antibody deficiency. Ann Allergy 1993; 70:3.
- Freeman AF, Holland SM. Antimicrobial prophylaxis for primary immunodeficiencies. Curr Opin Allergy Clin Immunol 2009; 9:525.
- Liston TE, Foshee WS, Pierson WD. Sulfisoxazole chemoprophylaxis for frequent otitis media. Pediatrics 1983; 71:524.
- Principi N, Marchisio P, Massironi E, et al. Prophylaxis of recurrent acute otitis media and middle-ear effusion. Comparison of amoxicillin with sulfamethoxazole and trimethoprim. Am J Dis Child 1989; 143:1414.
- De Diego JI, Prim MP, Alfonso C, et al. Comparison of amoxicillin and azithromycin in the prevention of recurrent acute otitis media. Int J Pediatr Otorhinolaryngol 2001; 58:47.
- Berlucchi M, Soresina A, Redaelli De Zinis LO, et al. Sensorineural hearing loss in primary antibody deficiency disorders. J Pediatr 2008; 153:293.
- EARLY DETECTION
- Detecting severe primary immunodeficiencies in neonates
- Detecting primary immunodeficiency in children and adults
- Secondary immunodeficiencies
- REFERRAL AND RESOURCES
- GENERAL CARE
- Avoidance of infection
- Immune globulin replacement
- Specialized immune globulins
- - Cytomegalovirus immune globulin
- - Varicella-zoster immune globulin
- - Palivizumab
- - Other immune serum globulins
- - Killed or subcomponent vaccines
- - Live vaccines
- Therapy of acute infections
- Prophylactic antimicrobial therapy
- - Representative regimens
- - Prevention of P. jirovecii pneumonia
- Other issues
- - Blood products
- - Audiologic care
- SUMMARY AND RECOMMENDATIONS