Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol

Division of Immunology, Children's Hospital Boston and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
The Journal of allergy and clinical immunology (Impact Factor: 11.48). 12/2009; 124(6):1161-78. DOI: 10.1016/j.jaci.2009.10.013
Source: PubMed

ABSTRACT More than 50 years after Ogdeon Bruton's discovery of congenital agammaglobulinemia, human primary immunodeficiencies (PIDs) continue to unravel novel molecular and cellular mechanisms that govern development and function of the human immune system. This report provides the updated classification of PIDs that has been compiled by the International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies after its biannual meeting in Dublin, Ireland, in June 2009. Since the appearance of the last classification in 2007, novel forms of PID have been discovered, and additional pathophysiology mechanisms that account for PID in human beings have been unraveled. Careful analysis and prompt recognition of these disorders is essential to prompt effective forms of treatment and thus to improve survival and quality of life in patients affected with PIDs.

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Available from: Jennifer M Puck, Oct 16, 2014
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    • "Severe combined immunodeficiency (SCID) is defined as a group of disorders that affect both humoral and cellular immunity. Two groups of SCID have been defined: B(+) SCID (with residual B cells) and B(−) SCID (with absence of B cells) [1]. Approximately 35% of all SCIDs are radiosensitive and 4 proteins and responsible genes (DCLRE1C gene for Artemis, LIG4 gene for DNA ligase IV, PRKDC gene for DNA protein kinase catalytic subunit, and NHEJ1 gene for Cernunnos) in nonhomologous end joining pathways have been identified as responsible genes [1, 2]. "
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    ABSTRACT: Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, and polydactyly. Firstly, she was thought as Fanconi anemia and spontaneous DNA breaks were seen on chromosomal analysis. After that DEB test was found to be normal and Fanconi anemia was excluded. Because of that she had low IgG and IgA levels, normal IgM level, and absence of B cells in peripheral blood; she was considered as primary immunodeficiency, Nijmegen breakage syndrome. A mutation in NBS1 gene was not found; then Cernunnos/XLF deficiency was investigated due to clinical similarities with previously reported cases. Homozygous mutation in Cernunnos/XLF gene (NHEJ1) was identified. She is now on regular IVIG prophylaxis and has no new infection. Fully matched donor screening is in progress for bone marrow transplantation which is curative treatment of the disease. In conclusion, the patients with microcephaly, bird-like face, and severe growth retardation should be evaluated for hypogammaglobulinemia and primary immunodeficiency diseases.
    01/2014; 2014:614238. DOI:10.1155/2014/614238
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    • "In addition, dedicator of cytokinesis 8 (DOCK8) deficiency is a very rare hyper-IgE syndrome and also associated with low levels of IgM. It is an autosomal recessive PID with characteristic laboratory findings, such as lymphopenia, especially in CD4 T cells, and eosinophilia [13, 14]. Although the IgE level was not measured in this patient, he revealed no T cell lymphopenia or eosinophilia. "
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    ABSTRACT: ABO discrepancy refers to an inconsistency between red cell and serum typings and has various causes, including hypogammaglobulinemia. IgM deficiency is a rare disorder that may accompany several conditions such as infection and autoimmune disorders. Here, we describe a case of IgM deficiency discovered during the evaluation of an ABO discrepancy in a 16-yr-old Korean boy. ABO blood grouping showed that while his cell type was O+, serum typing detected only anti-A (3+). Anti-B was not detectable at room temperature but was graded at 1+ at 4℃. ABO genotyping revealed an O/O genotype. His serum IgG, IgA, and IgM concentrations were 770 mg/dL (reference range: 800-1,700 mg/dL), 244 mg/dL (reference range: 100-490 mg/dL), and 13.5 mg/dL (reference range: 50-320 mg/dL), respectively. He was diagnosed with acute osteomyelitis on the basis of clinical presentation and imaging studies. The symptoms gradually improved within 3 weeks of treatment. However, the ABO discrepancy and IgM deficiency persisted even 6 months after recovery and lymphocyte subset analysis revealed CD19+ B cell deficiency. To the best of our knowledge, IgM deficiency detected by ABO discrepancy in a patient with acute osteomyelitis has not been reported before.
    Annals of Laboratory Medicine 05/2013; 33(3):208-11. DOI:10.3343/alm.2013.33.3.208 · 1.48 Impact Factor
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    • "A large number of primary immunodeficiencies have been characterized, ranging from relatively common conditions to extremely rare phenomena, with only a handful of cases identified.9 Diseases resulting from immunodeficiency vary greatly, ranging from fatal conditions if left untreated to asymptomatic phenotypes. "
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    ABSTRACT: A subset of patients with chronic rhinosinusitis (CRS) has refractory disease. The risk factors for refractory CRS include atopy, a disrupted mucociliary transport system, medical conditions affecting the sinonasal tract mucosa, and immunodeficiency. We review four primary immunodeficiencies reported in individuals with CRS: common variable immune deficiency (CVID), selective IgA deficiency, IgG subclass deficiency, and specific antibody deficiency. We also review treatment options for individuals with both CRS and a concomitant immune defect. There is a high prevalence of CRS in individuals with CVID and selective IgA deficiency. While many reports describe IgG subclass deficiency in individuals with CRS, the clinical relevance of this is unclear. Specific antibody deficiency may play a more significant role in the pathogenesis of refractory CRS. Screening for a primary immunodeficiency should be part of the diagnostic workup of refractory CRS, as its identification may allow for more effective long-term therapeutic options.
    American Journal of Rhinology and Allergy 03/2013; 27(1):34-8. DOI:10.2500/ajra.2013.27.3831 · 1.81 Impact Factor
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