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Endocrine, Metabolic & Immune Disorders - Drug Targets

Editor-in-Chief

ISSN (Print): 1871-5303
ISSN (Online): 2212-3873

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Abstract

Background and Objective: Primary immunodeficiency diseases (PIDs) are a group of more than 350 disorders affecting distinct components of the innate and adaptive immune systems. In this review, the classic and advanced stepwise approach towards the diagnosis of PIDs are simplified and explained in detail.

Results: Susceptibility to recurrent infections is the main hallmark of almost all PIDs. However, noninfectious complications attributable to immune dysregulation presenting with lymphoproliferative and/or autoimmune disorders are not uncommon. Moreover, PIDs could be associated with misleading presentations including allergic manifestations, enteropathies, and malignancies.

Conclusion: Timely diagnosis is the most essential element in improving outcome and reducing the morbidity and mortality in PIDs. This wouldn’t be possible unless the physicians keep the diagnosis of PID in mind and be sufficiently aware of the approach to these patients.

Keywords: Primary immunodeficiency disorders, infection, antibody deficiency, combined immunodeficiency, autoimmunity, enteropathy.

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Graphical Abstract

[1]
Picard, C.; Al-Herz, W.; Bousfiha, A.; Casanova, J.L.; Chatila, T.; Conley, M.E.; Cunningham-Rundles, C.; Etzioni, A.; Holland, S.M.; Klein, C.; Nonoyama, S.; Ochs, H.D.; Oksenhendler, E.; Puck, J.M.; Sullivan, K.E.; Tang, M.L.; Franco, J.L.; Gaspar, H.B. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J. Clin. Immunol., 2015, 35(8), 696-726.
[http://dx.doi.org/10.1007/s10875-015-0201-1] [PMID: 26482257]
[2]
Bazregari, S.; Azizi, G.; Tavakol, M.; Asgardoon, M.H.; Kiaee, F.; Tavakolinia, N.; Valizadeh, A.; Abolhassani, H.; Aghamohammadi, A. Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency. Cent. Eur. J. Immunol., 2017, 42(4), 336-341.
[http://dx.doi.org/10.5114/ceji.2017.72825] [PMID: 29479289]
[3]
Mohammadinejad, P.; Pourhamdi, S.; Abolhassani, H.; Mirminachi, B.; Havaei, A.; Masoom, S.N.; Sadeghi, B.; Ghajar, A.; Afarideh, M.; Parvaneh, N.; Mirsaeed-Ghazi, B.; Movahedi, M.; Gharagozlou, M.; Chavoushzadeh, Z.; Mahdaviani, A.; Zandieh, F.; Sherkat, R.; Sadeghi-Shabestari, M.; Faridhosseini, R.; Jabbari-Azad, F.; Ahanchian, H.; Zandkarimi, M.; Cherghi, T.; Fayezi, A.; Mohammadzadeh, I.; Amin, R.; Aleyasin, S.; Moghtaderi, M.; Ghaffari, J.; Bemanian, M.; Shafiei, A.; Kalantari, N.; Ahmadiafshar, A.; Khazaei, H.A.; Mohammadi, J.; Nabavi, M.; Rezaei, N.; Aghamohammadi, A. Primary Antibody Deficiency in a Tertiary Referral Hospital: A 30-Year Experiment. J. Investig. Allergol. Clin. Immunol., 2015, 25(6), 416-425.
[PMID: 26817138]
[4]
Aghamohammadi, A.; Bahrami, A.; Mamishi, S.; Mohammadi, B.; Abolhassani, H.; Parvaneh, N.; Rezaei, N. Impact of delayed diagnosis in children with primary antibody deficiencies. J. Microbiol. Immunol. Infect., 2011, 44(3), 229-234.
[http://dx.doi.org/10.1016/j.jmii.2011.01.026] [PMID: 21524619]
[5]
Ballow, M.; Notarangelo, L.; Grimbacher, B.; Cunningham-Rundles, C.; Stein, M.; Helbert, M.; Gathmann, B.; Kindle, G.; Knight, A.K.; Ochs, H.D.; Sullivan, K.; Franco, J.L. Immunodeficiencies. Clin. Exp. Immunol., 2009, 158(Suppl. 1), 14-22.
[http://dx.doi.org/10.1111/j.1365-2249.2009.04023.x] [PMID: 19883420]
[6]
Nourijelyani, K.; Aghamohammadi, A.; Salehi Sadaghiani, M.; Behniafard, N.; Abolhassani, H.; Pourjabar, S.; Rezvanizadeh, A.; Khadamy, J.; Imanzaeh, A.; Sedaghat, M.; Rezaei, N. Physicians awareness on primary immunodeficiency disorders in Iran. Iran. J. Allergy Asthma Immunol., 2012, 11(1), 57-64.
[PMID: 22427477]
[7]
Yüksek, M.; Ikincioğullari, A.; Doğu, F.; Elhan, A.; Yüksek, N.; Reisli, I.; Babacan, E. Primary immune deficiency disease awareness among a group of Turkish physicians. Turk. J. Pediatr., 2010, 52(4), 372-377.
[PMID: 21043382]
[8]
Bousfiha, A.A.; Jeddane, L.; Ailal, F.; Benhsaien, I.; Mahlaoui, N.; Casanova, J.L.; Abel, L. Primary immunodeficiency diseases worldwide: more common than generally thought. J. Clin. Immunol., 2013, 33(1), 1-7.
[http://dx.doi.org/10.1007/s10875-012-9751-7] [PMID: 22847546]
[9]
Stray-Pedersen, A.; Sorte, H.S.; Samarakoon, P.; Gambin, T.; Chinn, I.K.; Coban Akdemir, Z.H.; Erichsen, H.C.; Forbes, L.R.; Gu, S.; Yuan, B.; Jhangiani, S.N.; Muzny, D.M.; Rødningen, O.K.; Sheng, Y.; Nicholas, S.K.; Noroski, L.M.; Seeborg, F.O.; Davis, C.M.; Canter, D.L.; Mace, E.M.; Vece, T.J.; Allen, C.E.; Abhyankar, H.A.; Boone, P.M.; Beck, C.R.; Wiszniewski, W.; Fevang, B.; Aukrust, P.; Tjønnfjord, G.E.; Gedde-Dahl, T.; Hjorth-Hansen, H.; Dybedal, I.; Nordøy, I.; Jørgensen, S.F.; Abrahamsen, T.G.; Øverland, T.; Bechensteen, A.G.; Skogen, V.; Osnes, L.T.N.; Kulseth, M.A.; Prescott, T.E.; Rustad, C.F.; Heimdal, K.R.; Belmont, J.W.; Rider, N.L.; Chinen, J.; Cao, T.N.; Smith, E.A.; Caldirola, M.S.; Bezrodnik, L.; Lugo Reyes, S.O.; Espinosa Rosales, F.J.; Guerrero-Cursaru, N.D.; Pedroza, L.A.; Poli, C.M.; Franco, J.L.; Trujillo Vargas, C.M.; Aldave Becerra, J.C.; Wright, N.; Issekutz, T.B.; Issekutz, A.C.; Abbott, J.; Caldwell, J.W.; Bayer, D.K.; Chan, A.Y.; Aiuti, A.; Cancrini, C.; Holmberg, E.; West, C.; Burstedt, M.; Karaca, E.; Yesil, G.; Artac, H.; Bayram, Y.; Atik, M.M.; Eldomery, M.K.; Ehlayel, M.S.; Jolles, S.; Flatø, B.; Bertuch, A.A.; Hanson, I.C.; Zhang, V.W.; Wong, L.J.; Hu, J.; Walkiewicz, M.; Yang, Y.; Eng, C.M.; Boerwinkle, E.; Gibbs, R.A.; Shearer, W.T.; Lyle, R.; Orange, J.S.; Lupski, J.R. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J. Allergy Clin. Immunol., 2017, 139(1), 232-245.
[http://dx.doi.org/10.1016/j.jaci.2016.05.042] [PMID: 27577878]
[10]
Bousfiha, A.; Jeddane, L.; Picard, C.; Ailal, F.; Bobby Gaspar, H.; Al-Herz, W.; Chatila, T.; Crow, Y.J.; Cunningham-Rundles, C.; Etzioni, A.; Franco, J.L.; Holland, S.M.; Klein, C.; Morio, T.; Ochs, H.D.; Oksenhendler, E.; Puck, J.; Tang, M.L.K.; Tangye, S.G.; Torgerson, T.R.; Casanova, J.L.; Sullivan, K.E. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J. Clin. Immunol., 2018, 38(1), 129-143.
[http://dx.doi.org/10.1007/s10875-017-0465-8] [PMID: 29226301]
[11]
Alkhater, S.A. Approach to the child with recurrent infections. J. Family Community Med., 2009, 16(3), 77-82.
[PMID: 23012196]
[12]
Buckley, R.H. Diagnostic & Clinical Care Guidelines for Primary Immunodeficiency Diseases, Avalible from:. https://primaryimmune.org/sites/default/files/publications/2015-Diagnostic-and-Clinical-Care-Guidelines-for-PI_1.pdf2015.
[13]
Bonilla, F.A.; Khan, D.A.; Ballas, Z.K.; Chinen, J.; Frank, M.M.; Hsu, J.T.; Keller, M.; Kobrynski, L.J.; Komarow, H.D.; Mazer, B.; Nelson, R.P., Jr; Orange, J.S.; Routes, J.M.; Shearer, W.T.; Sorensen, R.U.; Verbsky, J.W.; Bernstein, D.I.; Blessing-Moore, J.; Lang, D.; Nicklas, R.A.; Oppenheimer, J.; Portnoy, J.M.; Randolph, C.R.; Schuller, D.; Spector, S.L.; Tilles, S.; Wallace, D. Practice parameter for the diagnosis and management of primary immunodeficiency. J. Allergy Clin. Immunol, 2015, 136(5), 1186- 205.e1, 78.
[http://dx.doi.org/10.1016/j.jaci.2015.04.049] [PMID: 26371839]
[14]
Abolhassani, H.; Akbari, F.; Mirminachi, B.; Bazregari, S.; Hedayat, E.; Rezaei, N.; Aghamohammadi, A. Morbidity and mortality of Iranian patients with hyper IgM syndrome: a clinical analysis. Iran. J. Immunol., 2014, 11(2), 123-133.
[PMID: 24975969]
[15]
Reust, C.E. Evaluation of primary immunodeficiency disease in children. Am. Fam. Physician, 2013, 87(11), 773-778.
[PMID: 23939499]
[16]
de Vries, E.; Driessen, G. Educational paper: Primary immunodeficiencies in children: a diagnostic challenge. Eur. J. Pediatr., 2011, 170(2), 169-177.
[http://dx.doi.org/10.1007/s00431-010-1358-5] [PMID: 21170549]
[17]
Seyama, K.; Nonoyama, S.; Gangsaas, I.; Hollenbaugh, D.; Pabst, H.F.; Aruffo, A.; Ochs, H.D. Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood, 1998, 92(7), 2421-2434.
[PMID: 9746782]
[18]
Costa-Carvalho, B.T.; Grumach, A.S.; Franco, J.L.; Espinosa-Rosales, F.J.; Leiva, L.E.; King, A.; Porras, O.; Bezrodnik, L.; Oleastro, M.; Sorensen, R.U.; Condino-Neto, A. Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice. J. Clin. Immunol., 2014, 34(1), 10-22.
[http://dx.doi.org/10.1007/s10875-013-9954-6] [PMID: 24241582]
[19]
Subbarayan, A.; Colarusso, G.; Hughes, S.M.; Gennery, A.R.; Slatter, M.; Cant, A.J.; Arkwright, P.D. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics, 2011, 127(5), 810-816.
[http://dx.doi.org/10.1542/peds.2010-3680] [PMID: 21482601]
[20]
Al-Mousa, H.; Al-Saud, B. Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care. Front. Immunol., 2017, 8, 678.
[http://dx.doi.org/10.3389/fimmu.2017.00678] [PMID: 28694805]
[21]
Wood, P.; Stanworth, S.; Burton, J.; Jones, A.; Peckham, D.G.; Green, T.; Hyde, C.; Chapel, H. Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review. Clin. Exp. Immunol., 2007, 149(3), 410-423.
[http://dx.doi.org/10.1111/j.1365-2249.2007.03432.x] [PMID: 17565605]
[22]
Lehman, H.; Hernandez-Trujillo, V.; Ballow, M. Diagnosing primary immunodeficiency: a practical approach for the non-immunologist. Curr. Med. Res. Opin., 2015, 31(4), 697-706.
[http://dx.doi.org/10.1185/03007995.2014.1001063] [PMID: 25530045]
[23]
Lindegren, M.L.; Kobrynski, L.; Rasmussen, S.A.; Moore, C.A.; Grosse, S.D.; Vanderford, M.L.; Spira, T.J.; McDougal, J.S.; Vogt, R.F., Jr; Hannon, W.H.; Kalman, L.V.; Chen, B.; Mattson, M.; Baker, T.G.; Khoury, M. Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. MMWR Recomm. Rep., 2004, 53(RR-1), 1-29.
[PMID: 14724556]
[24]
Panel on Antiretroviral Therapy and Medical Management of HIV-Infected Children. Last updated, 2019.http://aidsinfo.nih.gov/contentfiles/lvguidelines/pediatricGuidelines.pdf
[25]
Kwan, A.; Church, J.A.; Cowan, M.J.; Agarwal, R.; Kapoor, N.; Kohn, D.B.; Lewis, D.B.; McGhee, S.A.; Moore, T.B.; Stiehm, E.R.; Porteus, M.; Aznar, C.P.; Currier, R.; Lorey, F.; Puck, J.M. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J. Allergy Clin. Immunol., 2013, 132(1), 140-150.
[http://dx.doi.org/10.1016/j.jaci.2013.04.024] [PMID: 23810098]
[26]
Barbaro, M.; Ohlsson, A.; Borte, S.; Jonsson, S.; Zetterström, R.H.; King, J.; Winiarski, J.; von Döbeln, U.; Hammarström, L. Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study. J. Clin. Immunol., 2017, 37(1), 51-60.
[http://dx.doi.org/10.1007/s10875-016-0347-5] [PMID: 27873105]
[27]
Ahsan, S NJ The Harriet Lane Handbook: A Manual for Pediatric House Officers: Mosby Elsevier. 2012.
[28]
Hauk, P.J., Jr; Liu, A.H. Immunodeficiency evaluation: primary considerations.,
[29]
Kanegane, H.; Hoshino, A.; Okano, T.; Yasumi, T.; Wada, T.; Takada, H.; Okada, S.; Yamashita, M.; Yeh, T.W.; Nishikomori, R.; Takagi, M.; Imai, K.; Ochs, H.D.; Morio, T. Flow cytometry-based diagnosis of primary immunodeficiency diseases. Allergol. Int., 2018, 67(1), 43-54.
[http://dx.doi.org/10.1016/j.alit.2017.06.003] [PMID: 28684198]
[30]
McBride, J.A.; Striker, R. Imbalance in the game of T cells: What can the CD4/CD8 T-cell ratio tell us about HIV and health? PLoS Pathog., 2017, 13(11)e1006624
[http://dx.doi.org/10.1371/journal.ppat.1006624] [PMID: 29095912]
[31]
Aluri, J.; Gupta, M.; Dalvi, A.; Mhatre, S.; Kulkarni, M.; Hule, G.; Desai, M.; Shah, N.; Taur, P.; Vedam, R.; Madkaikar, M. Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India. Front. Immunol., 2018, 9, 188.
[http://dx.doi.org/10.3389/fimmu.2018.00188] [PMID: 29527204]
[32]
Pender, M.P. CD8+ T-Cell Deficiency, Epstein-Barr Virus Infection, Vitamin D Deficiency, and Steps to Autoimmunity: A Unifying Hypothesis. Autoimmune Dis., 2012.2012189096
[http://dx.doi.org/10.1155/2012/189096] [PMID: 22312480]
[33]
Takada, K.; Jameson, S.C. Self-class I MHC molecules support survival of naive CD8 T cells, but depress their functional sensitivity through regulation of CD8 expression levels. J. Exp. Med., 2009, 206(10), 2253-2269.
[http://dx.doi.org/10.1084/jem.20082553] [PMID: 19752186]
[34]
Troussard, X.; Cornet, E.; Lesesve, J.F.; Kourel, C.; Mossafa, H. Polyclonal B-cell lymphocytosis with binucleated lymphocytes (PPBL). OncoTargets Ther., 2008, 1, 59-66.
[http://dx.doi.org/10.2147/OTT.S4182] [PMID: 21127753]
[35]
Gupta, M.; Aluri, J.; Desai, M.; Lokeshwar, M.; Taur, P.; Lenardo, M.; Bergerson, J.; Dalvi, A.; Mhatre, S.; Kulkarni, M.; Kambli, P.; Madkaikar, M. Clinical, Immunological, and Molecular Findings in Four Cases of B Cell Expansion With NF-κB and T Cell Anergy Disease for the First Time From India. Front. Immunol., 2018, 9, 1049.
[http://dx.doi.org/10.3389/fimmu.2018.01049] [PMID: 29963038]
[36]
Orange, J.S. Natural killer cell deficiency. J. Allergy Clin. Immunol., 2013, 132(3), 515-525.
[http://dx.doi.org/10.1016/j.jaci.2013.07.020] [PMID: 23993353]
[37]
de Vries, E. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin. Exp. Immunol., 2012, 167(1), 108-119.
[http://dx.doi.org/10.1111/j.1365-2249.2011.04461.x] [PMID: 22132890]
[38]
Yu, J.E.; Azar, A.E.; Chong, H.J.; Jongco, A.M., III; Prince, B.T. Considerations in the Diagnosis of Chronic Granulomatous Disease. J. Pediatric Infect. Dis. Soc, 2018, 7(suppl_1), S6-S11.
[http://dx.doi.org/10.1093/jpids/piy007] [PMID: 29746674]
[39]
Mousallem, T.; Urban, T.J.; McSweeney, K.M.; Kleinstein, S.E.; Zhu, M.; Adeli, M.; Parrott, R.E.; Roberts, J.L.; Krueger, B.; Buckley, R.H.; Goldstein, D.B. Clinical application of whole-genome sequencing in patients with primary immunodeficiency. In: J. Allergy Clin. Immunol., 2015, 136, pp. 476-479.
[40]
Slatter, M.A.; Gennery, A.R. Clinical immunology review series: an approach to the patient with recurrent infections in childhood. Clin. Exp. Immunol., 2008, 152(3), 389-396.
[http://dx.doi.org/10.1111/j.1365-2249.2008.03641.x] [PMID: 18373701]
[41]
Bonilla, F.A.; Barlan, I.; Chapel, H.; Costa-Carvalho, B.T.; Cunningham-Rundles, C.; de la Morena, M.T.; Espinosa-Rosales, F.J.; Hammarström, L.; Nonoyama, S.; Quinti, I.; Routes, J.M.; Tang, M.L.; Warnatz, K. International Consensus Document (ICON): Common Variable Immunodeficiency Disorders. J. Allergy Clin. Immunol. Pract., 2016, 4(1), 38-59.
[http://dx.doi.org/10.1016/j.jaip.2015.07.025] [PMID: 26563668]
[42]
Yel, L. Selective IgA deficiency. J. Clin. Immunol., 2010, 30(1), 10-16.
[http://dx.doi.org/10.1007/s10875-009-9357-x] [PMID: 20101521]
[43]
Keles, S.; Artac, H.; Kara, R.; Gokturk, B.; Ozen, A.; Reisli, I. Transient hypogammaglobulinemia and unclassified hypogammaglobulinemia: ‘similarities and differences’. Pediatr. Allergy Immunol., 2010, 21(5), 843-851.
[http://dx.doi.org/10.1111/j.1399-3038.2010.01010.x] [PMID: 20609138]
[44]
Pasternak, G.; Lewandowicz-Uszyńska, A.; Pentoś, K. Disorders of Humoral Immunity in Children with IgG Subclass Deficiency and Recurrent Respiratory Infections. Adv. Exp. Med. Biol., 2018, 1108, 99-106.
[http://dx.doi.org/10.1007/5584_2018_263] [PMID: 30182338]
[45]
Clutterbuck, E.A.; Oh, S.; Hamaluba, M.; Westcar, S.; Beverley, P.C.; Pollard, A.J. Serotype-specific and age-dependent generation of pneumococcal polysaccharide-specific memory B-cell and antibody responses to immunization with a pneumococcal conjugate vaccine. Clin. Vaccine Immunol., 2008, 15(2), 182-193.
[http://dx.doi.org/10.1128/CVI.00336-07] [PMID: 18032593]
[46]
Fallahi, G.; Aghamohammadi, A.; Khodadad, A.; Hashemi, M.; Mohammadinejad, P.; Asgarian-Omran, H.; Najafi, M.; Farhmand, F.; Motamed, F.; Soleimani, K.; Soheili, H.; Parvaneh, N.; Darabi, B.; Nasiri Kalmarzi, R.; Pourhamdi, S.; Abolhassani, H.; Mirminachi, B.; Rezaei, N. Evaluation of antibody response to polysaccharide vaccine and switched memory B cells in pediatric patients with inflammatory bowel disease. Gut Liver, 2014, 8(1), 24-28.
[http://dx.doi.org/10.5009/gnl.2014.8.1.24] [PMID: 24516697]
[47]
Orange, J.S.; Jain, A.; Ballas, Z.K.; Schneider, L.C.; Geha, R.S.; Bonilla, F.A. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J. Allergy Clin. Immunol., 2004, 113(4), 725-733.
[http://dx.doi.org/10.1016/j.jaci.2004.01.762] [PMID: 15100680]
[48]
Nikolov, N.P.; Shimizu, M.; Cleland, S.; Bailey, D.; Aoki, J.; Strom, T.; Schwartzberg, P.L.; Candotti, F.; Siegel, R.M. Systemic autoimmunity and defective Fas ligand secretion in the absence of the Wiskott-Aldrich syndrome protein. Blood, 2010, 116(5), 740-747.
[http://dx.doi.org/10.1182/blood-2009-08-237560] [PMID: 20457871]
[49]
Mogensen, T.H. Primary Immunodeficiencies with Elevated IgE. Int. Rev. Immunol., 2016, 35(1), 39-56.
[PMID: 25970001]
[50]
Wen, L.; Atkinson, J.P.; Giclas, P.C. Clinical and laboratory evaluation of complement deficiency. J. Allergy Clin. Immunol., 2004, 113(4), 585-593.
[http://dx.doi.org/10.1016/j.jaci.2004.02.003] [PMID: 15100659]
[51]
de Vries, E. Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clin. Exp. Immunol., 2006, 145(2), 204-214.
[http://dx.doi.org/10.1111/j.1365-2249.2006.03138.x] [PMID: 16879238]
[52]
Aabom, A.; Bygum, A.; Koch, C. Complement factor C4 activation in patients with hereditary angioedema. Clin. Biochem., 2017, 50(15), 816-821.
[http://dx.doi.org/10.1016/j.clinbiochem.2017.04.007] [PMID: 28412283]
[53]
Santaella, M.L.; Peredo, R.; Disdier, O.M. IgA deficiency: clinical correlates with IgG subclass and mannan-binding lectin deficiencies. P. R. Health Sci. J., 2005, 24(2), 107-110.
[PMID: 16116926]
[54]
Coleman, M.S.; Donofrio, J.; Hutton, J.J.; Hahn, L.; Daoud, A.; Lampkin, B.; Dyminski, J. Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency. J. Biol. Chem., 1978, 253(5), 1619-1626.
[PMID: 627559]
[55]
Karim, Y.; Griffiths, H.; Deacock, S. Normal complement C4 values do not exclude hereditary angioedema. J. Clin. Pathol., 2004, 57(2), 213-214.
[http://dx.doi.org/10.1136/jcp.2003.12021] [PMID: 14747456]
[56]
Stray-Pedersen, A.; Borresen-Dale, A.L.; Paus, E.; Lindman, C.R.; Burgers, T.; Abrahamsen, T.G. Alpha fetoprotein is increasing with age in ataxia-telangiectasia. Eur. J. Paediatr. Neurol., 2007, 11(6), 375-380.
[http://dx.doi.org/10.1016/j.ejpn.2007.04.001] [PMID: 17540590]
[57]
Shen, Y.; Wu, B.L. Microarray-based genomic DNA profiling technologies in clinical molecular diagnostics. Clin. Chem., 2009, 55(4), 659-669.
[http://dx.doi.org/10.1373/clinchem.2008.112821] [PMID: 19233918]
[58]
Sgardioli, I.C.; Vieira, T.P.; Simioni, M.; Monteiro, F.P.; Gil-da-Silva-Lopes, V.L. 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening. J. Pediatr. Genet., 2015, 4(1), 17-22.
[http://dx.doi.org/10.1055/s-0035-1554976] [PMID: 27617111]
[59]
Keller, M.; Glessner, J.; Resnick, E.; Perez, E.; Chapel, H.; Lucas, M.; Sullivan, K.E.; Cunningham-Rundles, C.; Orange, J.S.; Hakonarson, H. Burden of Copy Number Variation in Common Variable Immunodeficiency. Clin. Exp. Immunol., 2013.
[PMID: 24329717]
[60]
Orange, JS.; Glessner, JT.; Resnick, E.; Sullivan, KE.; Lucas, M.; Ferry, B.; Kim, CE.; Hou, C.; Wang, F.; Chiavacci, R.; Kugathasan, S.; Sleasman, JW.; Baldassano, R.; Perez, EE.; Chapel, H.; Cunningham-Rundles, C.; Hakonarson, H. Genomewide association identifies diverse causes of common variable immunodeficiency J. Allergy. Clin. Immunol, 2011, 127, 1360-1367 e1366.
[61]
Pfundt, R.; Del Rosario, M.; Vissers, L.E.L.M.; Kwint, M.P.; Janssen, I.M.; de Leeuw, N.; Yntema, H.G.; Nelen, M.R.; Lugtenberg, D.; Kamsteeg, E.J.; Wieskamp, N.; Stegmann, A.P.A.; Stevens, S.J.C.; Rodenburg, R.J.T.; Simons, A.; Mensenkamp, A.R.; Rinne, T.; Gilissen, C.; Scheffer, H.; Veltman, J.A.P.D.; Hehir-Kwa, J.Y. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Genet. Med., 2017, 19(6), 667-675.
[http://dx.doi.org/10.1038/gim.2016.163] [PMID: 28574513]
[62]
Trost, B.; Walker, S.; Wang, Z.; Thiruvahindrapuram, B.; MacDonald, J.R.; Sung, W.W.L.; Pereira, S.L.; Whitney, J.; Chan, A.J.S.; Pellecchia, G.; Reuter, M.S.; Lok, S.; Yuen, R.K.C.; Marshall, C.R.; Merico, D.; Scherer, S.W. A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data. Am. J. Hum. Genet., 2018, 102(1), 142-155.
[http://dx.doi.org/10.1016/j.ajhg.2017.12.007] [PMID: 29304372]
[63]
Abolhassani, H.; Aghamohammadi, A.; Fang, M.; Rezaei, N.; Jiang, C.; Liu, X.; Pan-Hammarstrom, Q.; Hammarstrom, L. Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. Genet. Med., 2018.
[PMID: 29921932]
[64]
Patel, D.R.; Yu, H.; Wong, L.C.; Lupski, J.R.; Seeborg, F.O.; Rider, N.L.; Martinez, C.A.; Orange, J.S.; Hanson, C. Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report. J. Allergy Clin. Immunol. Pract., 2017, 5(5), 1442-1444.
[http://dx.doi.org/10.1016/j.jaip.2017.03.004] [PMID: 28438538]
[65]
Yu, H.; Zhang, VW.; Stray-Pedersen, A.; Hanson, IC.; Forbes, LR.; de la Morena, MT.; Chinn, IK.; Gorman, E.; Mendelsohn, NJ.; Pozos, T.; Wiszniewski, W.; Nicholas, SK.; Yates, AB.; Moore, LE.; Berge, KE.; Sorte, H.; Bayer, DK. D AL.; Geha, RS.; Feng, Y.; Wang, G.; Orange, JS.; Lupski, JR.; Wang, J.; Wong, LJ. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing J. Allergy. Clin. Immunol, 2016, 138, 1142-1151 e1142.
[66]
Al-Mousa, H.; Abouelhoda, M.; Monies, D.M.; Al-Tassan, N.; Al-Ghonaium, A.; Al-Saud, B.; Al-Dhekri, H.; Arnaout, R.; Al-Muhsen, S.; Ades, N.; Elshorbagi, S.; Al Gazlan, S.; Sheikh, F.; Dasouki, M.; El-Baik, L.; Elamin, T.; Jaber, A.; Kheir, O.; El-Kalioby, M.; Subhani, S.; Al Idrissi, E.; Al-Zahrani, M.; Alhelale, M.; Alnader, N.; Al-Otaibi, A.; Kattan, R.; Al Abdelrahman, K.; Al Breacan, M.M.; Bin Humaid, F.S.; Wakil, S.M.; Alzayer, F.; Al-Dusery, H.; Faquih, T.; Al-Hissi, S.; Meyer, B.F.; Hawwari, A. Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. J. Allergy Clin. Immunol., 2016, 137(6), 1780-1787.
[http://dx.doi.org/10.1016/j.jaci.2015.12.1310] [PMID: 26915675]
[67]
Nijman, I.J.; van Montfrans, J.M.; Hoogstraat, M.; Boes, M.L.; van de Corput, L.; Renner, E.D.; van Zon, P.; van Lieshout, S.; Elferink, M.G.; van der Burg, M.; Vermont, C.L.; van der Zwaag, B.; Janson, E.; Cuppen, E.; Ploos van Amstel, J.K.; van Gijn, M.E. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. J. Allergy Clin. Immunol., 2014, 133(2), 529-534.
[http://dx.doi.org/10.1016/j.jaci.2013.08.032] [PMID: 24139496]
[68]
Rae, W.; Ward, D.; Mattocks, C.; Pengelly, R.J.; Eren, E.; Patel, S.V.; Faust, S.N.; Hunt, D.; Williams, A.P. Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. Clin. Genet., 2018, 93(3), 647-655.
[http://dx.doi.org/10.1111/cge.13163] [PMID: 29077208]
[69]
Kuehn, H.S.; Ouyang, W.; Lo, B.; Deenick, E.K.; Niemela, J.E.; Avery, D.T.; Schickel, J-N.; Tran, D.Q.; Stoddard, J.; Zhang, Y.; Frucht, D.M.; Dumitriu, B.; Scheinberg, P.; Folio, L.R.; Frein, C.A.; Price, S.; Koh, C.; Heller, T.; Seroogy, C.M.; Huttenlocher, A.; Rao, V.K.; Su, H.C.; Kleiner, D.; Notarangelo, L.D.; Rampertaap, Y.; Olivier, K.N.; McElwee, J.; Hughes, J.; Pittaluga, S.; Oliveira, J.B.; Meffre, E.; Fleisher, T.A.; Holland, S.M.; Lenardo, M.J.; Tangye, S.G.; Uzel, G. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science, 2014, 345(6204), 1623-1627.
[http://dx.doi.org/10.1126/science.1255904] [PMID: 25213377]
[70]
Rehm, H.L.; Bale, S.J.; Bayrak-Toydemir, P.; Berg, J.S.; Brown, K.K.; Deignan, J.L.; Friez, M.J.; Funke, B.H.; Hegde, M.R.; Lyon, E. ACMG clinical laboratory standards for next-generation sequencing. Genet. Med., 2013, 15(9), 733-747.
[http://dx.doi.org/10.1038/gim.2013.92] [PMID: 23887774]
[71]
Casanova, J.L.; Conley, M.E.; Seligman, S.J.; Abel, L.; Notarangelo, L.D. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J. Exp. Med., 2014, 211(11), 2137-2149.
[http://dx.doi.org/10.1084/jem.20140520] [PMID: 25311508]
[72]
Meyts, I.; Bosch, B.; Bolze, A.; Boisson, B.; Itan, Y.; Belkadi, A.; Pedergnana, V.; Moens, L.; Picard, C.; Cobat, A.; Bossuyt, X.; Abel, L.; Casanova, J.L. Exome and genome sequencing for inborn errors of immunity. J. Allergy Clin. Immunol., 2016, 138(4), 957-969.
[http://dx.doi.org/10.1016/j.jaci.2016.08.003] [PMID: 27720020]
[73]
Tattini, L.; D’Aurizio, R.; Magi, A. Detection of Genomic Structural Variants from Next-Generation Sequencing Data. Front. Bioeng. Biotechnol., 2015, 3, 92.
[http://dx.doi.org/10.3389/fbioe.2015.00092] [PMID: 26161383]
[74]
Lionel, A.C.; Costain, G.; Monfared, N.; Walker, S.; Reuter, M.S.; Hosseini, S.M.; Thiruvahindrapuram, B.; Merico, D.; Jobling, R.; Nalpathamkalam, T.; Pellecchia, G.; Sung, W.W.L.; Wang, Z.; Bikangaga, P.; Boelman, C.; Carter, M.T.; Cordeiro, D.; Cytrynbaum, C.; Dell, S.D.; Dhir, P.; Dowling, J.J.; Heon, E.; Hewson, S.; Hiraki, L.; Inbar-Feigenberg, M.; Klatt, R.; Kronick, J.; Laxer, R.M.; Licht, C.; MacDonald, H.; Mercimek-Andrews, S.; Mendoza-Londono, R.; Piscione, T.; Schneider, R.; Schulze, A.; Silverman, E.; Siriwardena, K.; Snead, O.C.; Sondheimer, N.; Sutherland, J.; Vincent, A.; Wasserman, J.D.; Weksberg, R.; Shuman, C.; Carew, C.; Szego, M.J.; Hayeems, R.Z.; Basran, R.; Stavropoulos, D.J.; Ray, P.N.; Bowdin, S.; Meyn, M.S.; Cohn, R.D.; Scherer, S.W.; Marshall, C.R. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet. Med., 2018, 20(4), 435-443.
[http://dx.doi.org/10.1038/gim.2017.119] [PMID: 28771251]
[75]
Gallego-Bustos, F.; Gotea, V.; Ramos-Amador, J.T.; Rodríguez-Pena, R.; Gil-Herrera, J.; Sastre, A.; Delmiro, A.; Rai, G.; Elnitski, L.; González-Granado, L.I.; Allende, L.M. A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. Front. Immunol., 2016, 7, 443.
[http://dx.doi.org/10.3389/fimmu.2016.00443] [PMID: 27833609]

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