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Primary Immunodeficiencies: Diseases of Children and Adults – A Review

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Medical and Biomedical Updates

Part of the book series: Advances in Experimental Medicine and Biology ((CLEXBI,volume 1289))

Abstract

Primary immunodeficiencies (PIDs) belong to a group of rare congenital diseases occurring all over the world that may be seen in both children and adults. In most cases, genetic predispositions are already known. As shown in this review, genetic abnormalities may be related to dysfunction of the immune system, which manifests itself as recurrent infections, increased risk of cancer, and autoimmune diseases. This article reviews the various forms of PIDs, including their characterization, management strategies, and complications. Novel aspects of the diagnostics and monitoring of PIDs are presented.

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References

  • Abraham RS, Aubert G (2016) Flow cytometry, a versatile tool for diagnosis and monitoring of primary immunodeficiencies. Clin Vaccine Immunol 23(4):254–271

    CAS  PubMed  PubMed Central  Google Scholar 

  • Agarwal S, Mayer L (2013) Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clin Gastroenterol Hepatol 11(9):1050–1063

    PubMed  PubMed Central  Google Scholar 

  • Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, Cassani B, Callegaro L, Scaramuzza S, Andolfi G, Mirolo M, Brigida I, Tabucchi A, Carlucci F, Eibl M, Aker M, Slavin S, Al-Mousa H, Al Ghonaium A, Ferster A, Duppenthaler A, Notarangelo L, Wintergerst U, Buckley RH, Bregni M, Marktel S, Valsecchi MG, Rossi P, Ciceri F, Miniero R, Bordignon C, Roncarolo MG (2009) Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med 360:447–458

    CAS  PubMed  Google Scholar 

  • Albin S, Cunningham-Rundles C (2014) An update on the use of immunoglobulin for the treatment of immunodeficiency disorders. Immunotherapy 6(10):1113–1126

    CAS  PubMed  PubMed Central  Google Scholar 

  • Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan K, Tang ML (2014) Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 5:162

    PubMed  PubMed Central  Google Scholar 

  • Alper CA, Marcus-Bagley D, Awdeh Z, Kruskall MS, Eisenbarth GS, Brink SJ, Katz A, Stein R, Bing DH, Yunis EJ, Schur PH (2000) Prospective analysis suggests susceptibility genes for deficiencies of IgA and several other immunoglobulins on the [HLA-B8, SC01, DR3] conserved extended haplotype. Tissue Antigens 56:207–216

    CAS  PubMed  Google Scholar 

  • Antoine C, Muller S, Cant A, Cavazzana-Calvo M, Veys P, Vossen J, Fasth A, Heilmann C, Wulffraat N, Seger R, Blanche S, Friedrich W, Abinun M, Davies G, Bredius R, Schulz A, Landais P, Fischer A (2003) Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet 361:553–560

    PubMed  Google Scholar 

  • Arkwright PD, Gennery AR (2011) Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. Ann N Y Acad Sci 1238:7–14

    PubMed  Google Scholar 

  • Arkwright PD, Abinum M, Cant AJ (2002) Autoimmunity in human primary immunodeficiency diseases. Blood 99(8):2694–2702

    CAS  PubMed  Google Scholar 

  • Azizi G, Ahmadi M, Abolhassani H, Yazdani R, Mohammadi H, Mirshafiey A, Rezaei N, Aghamohammadi A (2016) Autoimmunity in primary antibody deficiencies. Int Arch Allergy Immunol 171(3–4):180–193

    CAS  PubMed  Google Scholar 

  • Bazregari S, Azizi G, Tavakol M, Asgardoon MH, Kiaee F, Tavakolinia N, Valizadeh A, Abolhassani H, Aghamohammadi A (2017) Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency. Cent Eur J Immunol 42(4):336–341

    CAS  PubMed  PubMed Central  Google Scholar 

  • Bernatowska E, Zeman K, Lewandowicz-Uszyńska A, Kurenko-Deptuch M, Pac M, Wolska-Kuśnierz B, Mikoluc B (2007) The Polish working group for primary immunodeficiency. Cent Eur J Immunol 32(1):34–40

    Google Scholar 

  • Bestas B, Moreno PM, Blomberg KE, Mohammad DK, Saleh AF, Sutlu T, Nordin JZ, Guterstam P, Gustafsson MO, Kharazi S, Piątosa B, Roberts TC, Behlke MA, Wood MJ, Gait MJ, Lundin KE, El Andaloussi S, Månsson R, Berglöf A, Wengel J, Smith CI (2014) Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model. J Clin Invest 124:4067–4081

    CAS  PubMed  PubMed Central  Google Scholar 

  • Blaese RM, Culver KW, Miller AD, Carter CS, Fleisher T, Clerici M, Shearer G, Chang L, Chiang Y, Tolstoshev P, Greenblatt JJ, Rosenberg SA, Klein H, Berger M, Mullen CA, Ramsey WJ, Muul L, Morgan RA, Anderson WF (1995) T lymphocyte-directed gene therapy for ADA-SCID: initial trial results after 4 years. Science 270:475–480

    CAS  PubMed  Google Scholar 

  • Bogunia-Kubik K, Sugisaka M (2002) From molecular biology to nanotechnology and nanomedicine. Biosystems 65:123–138

    CAS  PubMed  Google Scholar 

  • Boisson B, Quartier P, Casanova JL (2015) Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind. Curr Opin Immunol 32:90–105

    CAS  PubMed  Google Scholar 

  • Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL (2010) Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet 87:873–881

    CAS  PubMed  PubMed Central  Google Scholar 

  • Bonilla FA, Khan DA, Ballas ZK, Chinen J, Frank MM, Hsu JT, Keller M, Kobrynski LJ, Komarow HD, Mazer B, Nelson RP Jr, Orange JS, Routes JM, Shearer WT, Sorensen RU, Verbsky JW, Bernstein DI, Blessing-Moore J, Lang D, Nicklas RA, Oppenheimer J, Portnoy JM, Randolph CR, Schuller D, Spector SL, Tilles S, Wallace D (2015) Joint Task Force on Practice Parameters, representing the American Academy of Allergy, Asthma & Immunology; the American College of Allergy, Asthma & Immunology; and the Joint Council of Allergy, Asthma & Immunology. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol 136(5):1186–1205

    PubMed  Google Scholar 

  • Booth C, Gaspar HB (2009) Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID). Biologics 3:349–358

    CAS  PubMed  PubMed Central  Google Scholar 

  • Borte S, Wang N, Oskarsdottir S, von Döbeln U, Hammarström L (2011a) Newborn screening for primary immunodeficiencies: beyond SCID and XLA. Ann N Y Acad Sci 1246:118–130

    CAS  PubMed  Google Scholar 

  • Borte M, Bernatowska E, Ochs HD, Roifman CM, Vivaglobin Study Group (2011b) Efficacy and safety of home-based subcutaneous immunoglobulin replacement therapy in paediatric patients with primary immunodeficiencies. Clin Exp Immunol 164(3):357–364

    CAS  PubMed  PubMed Central  Google Scholar 

  • Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarström L, Nonoyama S, Ochs HD, Roifman CM, Seger R, Tang ML, Puck JM, Chapel H, Notarangelo LD, Casanova JL (2013) A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol 33(6):1078–1087

    CAS  PubMed  PubMed Central  Google Scholar 

  • Boyarchuk O, Volyanska L, Dmytrash L (2017) Clinical variability of chromosome 22q11.2 deletion syndrome. Cent Eur J Immunol 42(4):412–417

    PubMed  PubMed Central  Google Scholar 

  • Boyle JM, Buckley RH (2007) Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol 27:497–502

    CAS  PubMed  Google Scholar 

  • Boztug K, Schmidt M, Schwarzer A, Banerjee PP, Díez IA, Dewey RA, Böhm M, Nowrouzi A, Ball CR, Glimm H, Naundorf S, Kühlcke K, Blasczyk R, Kondratenko I, Maródi L, Orange JS, von Kalle C, Klein C (2010) Stem-cell gene therapy for the Wiskott-Aldrich syndrome. N Engl J Med 363:1918–1927

    CAS  PubMed  PubMed Central  Google Scholar 

  • Bruton OC (1952) Agammaglobulinemia. Pediatrics 9(6):722–728

    CAS  PubMed  Google Scholar 

  • Candotti F, Shaw KL, Muul L, Carbonaro D, Sokolic R, Choi C, Schurman SH, Garabedian E, Kesserwan C, Jagadeesh GJ, Fu PY, Gschweng E, Cooper A, Tisdale JF, Weinberg KI, Crooks GM, Kapoor N, Shah A, Abdel-Azim H, Yu XJ, Smogorzewska M, Wayne AS, Rosenblatt HM, Davis CM, Hanson C, Rishi RG, Wang X, Gjertson D, Yang OO, Balamurugan A, Bauer G, Ireland JA, Engel BC, Podsakoff GM, Hershfield MS, Blaese RM, Parkman R, Kohn DB (2012) Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. Blood 120:3635–3646

    CAS  PubMed  PubMed Central  Google Scholar 

  • Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G, Schmidt M, Kutschera I, Vidaud M, Abel U, Dal-Cortivo L, Caccavelli L, Mahlaoui N, Kiermer V, Mittelstaedt D, Bellesme C, Lahlou N, Lefrère F, Blanche S, Audit M, Payen E, Leboulch P, l’Homme B, Bougnères P, Von Kalle C, Fischer A, Cavazzana-Calvo M, Aubourg P (2009) Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 326:818–823

    CAS  PubMed  Google Scholar 

  • Castellano G, Moreno D, Galvao O, Ballestín C, Colina F, Mollejo M, Morillas JD, Solís Herruzo JA (1992) Malignant lymphoma of jejunum with common variable hypogammaglobulinemia and diffuse nodular hyperplasia of the small intestine. A case study and literature review. J Clin Gastroenterol 15:128–135

    CAS  PubMed  Google Scholar 

  • Castiello MC, Bosticardo M, Pala F, Catucci M, Chamberlain N, van Zelm MC, Driessen GJ, Pac M, Bernatowska E, Scaramuzza S, Aiuti A, Sauer AV, Traggiai E, Meffre E, Villa A, van der Burg M (2014) Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans. J Autoimmun 50:42–50

    CAS  PubMed  PubMed Central  Google Scholar 

  • Chrzanowska KH, Digweed M, Sperling K, Seemanova E (2009) DNA-repair deficiency and cancer: lessons from lymphoma. In: Allgayer H, Rehder H, Fulda S (eds) Hereditary tumors: from genes to clinical consequences. Wiley, Hoboken, pp 377–391

    Google Scholar 

  • Conley ME, Casanova JL (2014) Discovery of single-gene inborn errors of immunity by next generation sequencing. Curr Opin Immunol 30C:17–23

    Google Scholar 

  • Cunningham-Rundles C (2011) Autoimmunity in primary immune deficiency: taking lessons from our patients. Clin Exp Immunol 164(Suppl 2):6–11

    PubMed  PubMed Central  Google Scholar 

  • Dembowska-Baginska B, Perek D, Brozyna A, Wakulinska A, Olczak-Kowalczyk D, Gladkowska-Dura M, Grajkowska W, Chrzanowska KH (2009) Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer 52(2):186–190

    PubMed  Google Scholar 

  • Dong J, Liang H, Wen D, Wang J (2016) Adult common variable immunodeficiency. Am J Med Sci 351(3):239–243

    PubMed  Google Scholar 

  • Durandy A, Kracker S, Fischer A (2013) Primary antibody deficiencies. Nat Rev Immunol 13(7):519–533

    CAS  PubMed  Google Scholar 

  • Eades-Perner AM, Gathmann B, Knerr V, Guzman D, Veit D, Kindle G, Grimbacher B (2007) The European internet-based patient and research database for primary immunodeficiencies: results 2004-06. Clin Exp Immunol 147(2):306–312

    PubMed  PubMed Central  Google Scholar 

  • Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M (2013) Gene therapy of primary T cell immunodeficiencies. Gene 525:170–173

    CAS  PubMed  Google Scholar 

  • Froňková E, Klocperk A, Svatoň M, Nováková M, Kotrová M, Kayserová J, Kalina T, Keslová P, Votava F, Vinohradská H, Freiberger T, Mejstříková E, Trka J, Sedivá A (2014) The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome. PLoS One 9(1–13):e114514

    PubMed  PubMed Central  Google Scholar 

  • Gaspar HB, Parsley KL, Howe S, King D, Gilmour KC, Sinclair J, Brouns G, Schmidt M, Von Kalle C, Barington T, Jakobsen MA, Christensen HO, Al Ghonaium A, White HN, Smith JL, Levinsky RJ, Ali RR, Kinnon C, Thrasher AJ (2004) Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet 364(9452):2181–2187

    CAS  PubMed  Google Scholar 

  • Gaspar HB, Cooray S, Gilmour KC, Parsley KL, Zhang F, Adams S, Bjorkegren E, Bayford J, Brown L, Davies EG, Veys P, Fairbanks L, Bordon V, Petropoulou T, Kinnon C, Thrasher AJ (2011) Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction. Sci Transl Med 3(97):97ra80

    PubMed  Google Scholar 

  • Gennery AR (2016) The sting of WASP deficiency: autoimmunity exposed. Blood 127(2):173–175

    CAS  PubMed  Google Scholar 

  • Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, Amrolia PJ, Gaspar HB, Davies EG, Friedrich W, Hoenig M, Notarangelo LD, Mazzolari E, Porta F, Bredius RG, Lankester AC, Wulffraat NM, Seger R, Güngör T, Fasth A, Sedlacek P, Neven B, Blanche S, Fischer A, Cavazzana-Calvo M, Landais P (2010) Transplantation of hematopoietic stem cells and long term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol 126:602–610

    PubMed  Google Scholar 

  • Gompels MM, Hodges E, Rj L, Angus B, White H, Larkin A, Chapel HM, Spickett GP, Misbah SA, JL S, Associated Study Group (2003) Lymphoproliferative disease in antibody deficiency: a multi-Centre study. Clin Exp Immunol 134(2):314–320

    CAS  PubMed  PubMed Central  Google Scholar 

  • Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O’Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT (2009) Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol 124:1152–1160

    PubMed  PubMed Central  Google Scholar 

  • Gulácsy V, Freiberger T, Shcherbina A, Pac M, Chernyshova L, Avcin T, Kondratenko I, Kostyuchenko L, Prokofjeva T, Pasic S, Bernatowska E, Kutukculer N, Rascon J, Iagaru N, Mazza C, Tóth B, Erdos M, van der Burg M, Maródi L, J Project Study Group (2011) Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. Mol Immunol 48:788–792

    PubMed  Google Scholar 

  • Hacein-Bey-Abina S, Hauer J, Lim A, Picard C, Wang GP, Berry CC, Martinache C, Rieux-Laucat F, Latour S, Belohradsky BH, Leiva L, Sorensen R, Debré M, Casanova JL, Blanche S, Durandy A, Bushman FD, Fischer A, Cavazzana-Calvo M (2010) Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 363:355–364

    CAS  PubMed  PubMed Central  Google Scholar 

  • Hassan A, Booth C, Brightwell A, Allwood Z, Veys P, Rao K, Hönig M, Friedrich W, Gennery A, Slatter M, Bredius R, Finocchi A, Cancrini C, Aiuti A, Porta F, Lanfranchi A, Ridella M, Steward C, Filipovich A, Marsh R, Bordon V, Al-Muhsen S, Al-Mousa H, Alsum Z, Al-Dhekri H, Al Ghonaium A, Speckmann C, Fischer A, Mahlaoui N, Nichols KE, Grunebaum E, Al Zahrani D, Roifman CM, Boelens J, Davies EG, Cavazzana-Calvo M, Notarangelo L, Gaspar HB (2012) Outcome of haematopoietic stem cell transplantation for adenosine deaminase deficient severe combined immunodeficiency. Blood 120:3615–3624

    CAS  PubMed  Google Scholar 

  • Immune Deficiency Foundation (2002) https://web.hsd.es/redip/docs/res_his_REDIP.pdf. Primary immune deficiency diseases in America: the first national survey of patients and specialists. https://www.primaryimmune.org/publications/surveys/second_national_survey_of_patients_(2002).pdf. Accessed on 5 May 2020

  • IPOPI (2020) International patient organization for primary immunodeficiencies. https://www.ipopi.org. Accessed on 5 May 2020

  • Kohn DB (2008) Gene therapy for childhood immunological diseases. Bone Marrow Transplant 41:199–205

    CAS  PubMed  Google Scholar 

  • Lambert G, Fattal E, Couvreur P (2001) Nanoparticulate systems for the delivery of antisense oligonucleotides. Adv Drug Deliv Rev 47:99–112

    CAS  PubMed  Google Scholar 

  • Lewandowicz-Uszyńska A, Jankowski A (2011) Intravenous immunoglobulin preparations in the treatment of primary immunodeficiency. Pol Merk Lek 180:409–412

    Google Scholar 

  • Lewandowicz-Uszyńska A, Świerkot J, Jargulińska E, Jankowski A (2007) Common variable immunodeficiency. Cent Eur J Immunol 32(1):21–26

    Google Scholar 

  • Lewandowicz-Uszyńska A, Szaflarska A, Pietrucha B, Wójcik J, Pochylczuk R, Kuśmirek B (2013) Standards of treatment with subcutaneous immunoglobulins in primary immunodeficiencies – guidelines for doctors and nurses drawn up by three immunology centers in Poland. In: Etzioni A, Gambineri E (eds) Proceeding of the 15th meeting of the European Society Immunodeficiencies – ESID. Florence (Italy), October 3–6, 2012. Medimond S.r.l, Bologna, pp 123–125. ISBN 978-88-7587-666-1

    Google Scholar 

  • Locke BA, Dasu T, Verbsky JW (2014) Laboratory diagnosis of primary immunodeficiencies. Clin Rev Allergy Immunol 46(2):154–168

    CAS  PubMed  Google Scholar 

  • Ludvigsson JF, Neovius M, Ye W, Hammarström L (2015) IgA deficiency and risk of cancer: a population-based matched cohort study. J Clin Immunol 35(2):182–188

    CAS  PubMed  Google Scholar 

  • Malacarne F, Benicchi T, Notarangelo LD, Mori L, Parolini S, Caimi L, Hershfield M, Notarangelo LD, Imberti L (2005) Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients. Eur J Immunol 35:3376–3386

    CAS  PubMed  Google Scholar 

  • Markert ML, Devlin BH, McCarthy EA (2010) Thymus transplantation. Clin Immunol 135:236–246

    CAS  PubMed  PubMed Central  Google Scholar 

  • Martínez García MA, de Rojas MD, Manzur NMD, Muñoz Pamplona MP, Compte Torrero L, Macián V, Perpiñá Tordera M (2001) Respiratory disorders in common variable immunodeficiency. Respir Med 95(3):191–195

    PubMed  Google Scholar 

  • McCusker C, Warrington R (2011) Primary immunodeficiency. Allergy Asthma Clin Immunol 7:S1–S11

    Google Scholar 

  • Merten OW, Charrier S, Laroudie N, Fauchille S, Dugué C, Jenny C, Audit M, Zanta-Boussif MA, Chautard H, Radrizzani M, Vallanti G, Naldini L, Noguiez-Hellin P, Galy A (2011) Large-scale manufacture and characterization of a lentiviral vector produced for clinical ex vivo gene therapy application. Hum Gene Ther 22:343–356

    CAS  PubMed  Google Scholar 

  • Moens LN, Falk-Sorqvist E, Asplund AC, Bernatowska E, Smith CI, Nilsson M (2014) Diagnostics of primary immunodeficiency diseases: a sequencing capture approach. PLoS One 9(12):e114901

    PubMed  PubMed Central  Google Scholar 

  • Moore ML, Quinn JM (2008) Subcutaneous immunoglobulin replacement therapy for primary antibody deficiency: advancements into the 21st century. Ann Allergy Asthma Immunol 101(2):114–121

    CAS  PubMed  Google Scholar 

  • Mortaz E, Tabarsi P, Mansouri D, Khosravi A, Garssen J, Velayati A, Adcock IM (2016) Cancers related to Immunodeficiencies: update and perspectives. Front Immunol 7:365

    PubMed  PubMed Central  Google Scholar 

  • Mountain A (2000) Gene therapy: the first decade. Trends Biotechnol 18:119–127

    CAS  PubMed  Google Scholar 

  • Mukherjee S, Thrasher AJ (2013) Gene therapy for PIDs: progress, pitfalls and prospects. Gene 525:174–181

    CAS  PubMed  PubMed Central  Google Scholar 

  • Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME (2014) Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol 133:529–534

    CAS  PubMed  Google Scholar 

  • Noordzij JG, de Bruin-Versteeg S, Hartwig NG, Weemaes CM, Gerritsen EJ, Bernatowska E, van Lierde S, de Groot R, van Dongen JJ (2002) XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts. J Clin Immunol 22:306–318

    CAS  PubMed  Google Scholar 

  • Notarangelo L, Casanova JL, Fischer A, Puck J, Rosen F, Seger R, Geha R (2004) Primary immunodeficiency diseases: an update. J Allergy Clin Immunol 114:677–687

    CAS  PubMed  Google Scholar 

  • Ochs HD, Smith CIE, Puck JM (2014) Primary immunodeficiency diseases. A molecular and genetic approach. Oxford University Press, New York

    Google Scholar 

  • Onodera M, Ariga T, Kawamura N, Kobayashi I, Ohtsu M, Yamada M, Tame A, Furuta H, Okano M, Matsumoto S, Kotani H, McGarrity GJ, Blaese RM, Sakiyama Y (1998) Successful peripheral T-lymphocyte-direct gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. Blood 91:30–36

    CAS  PubMed  Google Scholar 

  • OʼSullivan MD, Cant AJ (2012) The 10 warning signs: a time for a change? Curr Opin Allergy Clin Immunol 12(6):588–594

    PubMed  Google Scholar 

  • Patuzzo G, Barbieri A, Tinazzi E, Veneri D, Argentino G, Moretta F, Puccettio P, Lunardi C (2016) Autoimmunity and infection in common variable immunodeficiency (CVID). Autoimmun Rev 15(9):877–882

    CAS  PubMed  Google Scholar 

  • Pessach IM, Notarangelo LD (2011) Gene therapy for primary immunodeficiencies: looking ahead, toward gene correction. J Allergy Clin Immunol 127(6):1344–1350

    PubMed  PubMed Central  Google Scholar 

  • Piątosa B, Pac M, Siewiera K, Pietrucha B, Klaudel-Dreszler M, Heropolitańska-Pliszka E, Wolska-Kuśnierz B, Dmeńska H, Gregorek H, Sokolnicka I, Rękawek A, Tkaczyk K, Bernatowska E (2013) Common variable immune deficiency in children – clinical characteristics varies depending on defect in peripheral B cell maturation. J Clin Immunol 33:731–741

    PubMed  PubMed Central  Google Scholar 

  • Pietrucha B, Heropolitañska-Pliszka E, Gatti RA, Bernatowska E (2007) Ataxia-telangiectasia: guidelines for diagnosis and comprehensive care. Cent Eur J Immunol 32(4):234–238

    Google Scholar 

  • Pietrucha B, Gregorek H, Heropolitańska-Pliszka E, Bernatowska E (2018) Primary immunodeficiency with double strain break DNA (DSBs) and radiosensitvity: clinical, diagnostic and therapeutic implications. Postepy Hig Med Dosw 72:449–460. (Article in Polish)

    Google Scholar 

  • Podralska MJ, Stembalska A, Ślęzak R, Lewandowicz-Uszyńska A, Pietrucha B, Kołtan S, Wigowska-Sowińska J, Pilch J, Mosor M, Ziółkowska-Suchanek I, Dzikiewicz-Krawczyk A, Słomski R (2014) Ten new ATM alterations in polish patients with ataxia-telangiectasia. Mol Genet Genomic Med 2:504–511

    CAS  PubMed  PubMed Central  Google Scholar 

  • Raje N, Soden S, Swanson D, Ciaccio CE, Kingsmore SF, Dinwiddie DL (2014) Utility of next generation sequencing in clinical primary immunodeficiencies. Curr Allergy Asthma Rep 14:468

    PubMed  PubMed Central  Google Scholar 

  • Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C (2012) Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 119:1650–1657

    CAS  PubMed  PubMed Central  Google Scholar 

  • Rezaei N, Amirzargar AA, Shakiba Y, Mahmoudi M, Moradi B, Aghamohammadi A (2009) Proinflammatory cytokine gene single nucleotide polymorphisms in common variable immunodeficiency. Clin Exp Immunol 155:21–27

    CAS  PubMed  PubMed Central  Google Scholar 

  • Rich R, Fleisher A, Shearer T, Schroeder H, Frew A, Weyand C (2001) Clinical immunology – principles and practice. Mosby, London

    Google Scholar 

  • Rochman Y, Spolski R, Leonard WJ (2009) New insights into the regulation of T cells by gamma(c) family cytokines. Nat Rev Immunol 9:480–490

    CAS  PubMed  PubMed Central  Google Scholar 

  • Routes J, Abinun M, Al-Herz W, Condino-Neto A, De La Morena MT, Etzioni A, Gambineri E, Haddad E, Kobrynski L, Le Deist F, Nonoyama S, Oliveira JB, Perez E, Picard C, Rezaei N, Sleasman J, Sullivan KE, Torgerson T (2014) ICON: the early diagnosis of congenital immunodeficiencies. J Clin Immunol 34(4):398–424

    CAS  PubMed  Google Scholar 

  • Roy-Ghanta S, Orange JS (2010) Use of cytokine therapy in primary immunodeficiency. Clin Rev Allergy Immunol 38:39–53

    CAS  PubMed  Google Scholar 

  • Sauer AV, Brigida I, Carriglio N, Aiut A (2012) Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. Front Immunol 3:265

    PubMed  PubMed Central  Google Scholar 

  • Shehata N, Palda V, Bowen T, Haddad E, Issekutz TB, Mazer B, Schellenberg R, Warrington R, Easton D, Anderson D, Hume H (2010) The use of immunoglobulin therapy for patients with primary immune deficiency: an evidence-based practice guideline. Transfus Med Rev 24:S28–S50

    PubMed  Google Scholar 

  • Spickett GP, Farrant J, North ME (1997) Common variable immunodeficiency: how many diseases? Immunol Today 18(7):325–328

    CAS  PubMed  Google Scholar 

  • Stoddard JL, Niemela JE, Fleisher TA, Rosenzweig SD (2014) Targeted NGS: a cost-effective approach to molecular diagnosis of PIDs. Front Immunol 5:531

    PubMed  PubMed Central  Google Scholar 

  • Świerkot J, Lewandowicz-Uszyńska A (2007) Autoimmune disorders in the course of primary immunodeficiency. Cent Eur J Immunol 32(1):27–33

    Google Scholar 

  • Tangye SG, Al-Herz W, Aziz BA, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs DO, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE (2020) Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 40:24–64

    PubMed  PubMed Central  Google Scholar 

  • Touzot F, Hacein-Bey-Abina S, Fischer A, Cavazzana M (2014) Gene therapy for inherited immunodeficiency. Expert Opin Biol Ther 14:789–798

    CAS  PubMed  Google Scholar 

  • Van Zelm MC, Szczepanski T, van der Burg M, van Dongen JJ (2007) Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. J Exp Med 204:645–655

    PubMed  PubMed Central  Google Scholar 

  • Van Zelm MC, van der Burg M, Langerak AW, van Dongen JJM (2011) PID comes full circle: applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders. Front Immunol 2:12

    PubMed  PubMed Central  Google Scholar 

  • Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B, Heropolitańska-Pliszka E, Pac M, Klaudel-Dreszler M, Kostyuchenko L, Pasic S, Marodi L, Belohradsky BH, Čižnár P, Shcherbina A, Kilic SS, Baumann U, Seidel MG, Gennery AR, Syczewska M, Mikołuć B, Kałwak K, Styczyński J, Pieczonka A, Drabko K, Wakulińska A, Gathmann B, Albert MH, Skarżyńska U, Bernatowska E, Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies (2015) Nijmegen breakage syndrome: clinical and immunological features, long-term outcome and treatment options a retrospective analysis. J Clin Immunol 35:538–549

    PubMed  Google Scholar 

  • Wysoczańska B (2008) T-cell receptor rearrangement excision circles (TRECs) as a marker of thymic function. Postepy Hig Med Dosw (Online) 62:708–724. (Article in Polish)

    Google Scholar 

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Conflicts of Interest

The authors declare that they have no conflict of interest in relation to this article.

Ethical Approval

This review article does not contain any studies with human participants or animals performed by any of the authors.

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Authors and Affiliations

  1. Third Department and Clinic of Pediatrics, Immunology and Rheumatology of Developmental Age, Wroclaw Medical University, Wroclaw, Poland

    Aleksandra Lewandowicz-Uszyńska & Gerard Pasternak

  2. Department of Immunology and Pediatrics, The J. Gromkowski Provincial Hospital, Wroclaw, Poland

    Aleksandra Lewandowicz-Uszyńska

  3. Department and Clinic of Rheumatology and Internal Medicine, Wroclaw Medical University, Wroclaw, Poland

    Jerzy Świerkot

  4. Laboratory of Clinical Immunogenetics and Pharmacogenetics, The Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wroclaw, Poland

    Katarzyna Bogunia-Kubik

Authors
  1. Aleksandra Lewandowicz-Uszyńska
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  2. Gerard Pasternak
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  3. Jerzy Świerkot
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  4. Katarzyna Bogunia-Kubik
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Corresponding author

Correspondence to Aleksandra Lewandowicz-Uszyńska .

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Editors and Affiliations

  1. Opole Medical School, Opole, Poland

    Mieczyslaw Pokorski

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Lewandowicz-Uszyńska, A., Pasternak, G., Świerkot, J., Bogunia-Kubik, K. (2020). Primary Immunodeficiencies: Diseases of Children and Adults – A Review. In: Pokorski, M. (eds) Medical and Biomedical Updates. Advances in Experimental Medicine and Biology(), vol 1289. Springer, Cham. https://doi.org/10.1007/5584_2020_556

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