Immunodeficiency References
ASCIA HP Immunodeficiency References 2025299.29 KB
Abolhassani, H., Sadaghiani, M. S., Aghamohammadi, A., Ochs, H. D., & Rezaei, N. (2012). Home-based subcutaneous immunoglobulin versus hospital-based intravenous immunoglobulin in treatment of primary antibody deficiencies: systematic review and meta analysis. Journal of clinical immunology, 32, 1180-1192. https://doi.org/10.1007/s10875-012-9720-1
Adrian YS Lee, P. E. G. (2014). Evaluating for immunodeficiency in children with recurrent infection. Australian Journal for General Practitioners, 43, 629-632. https://www.racgp.org.au/afp/2014/september/evaluating-for-immunodeficiency-in-children-with-r
Agarwal, S., Ferreira, V. P., Cortes, C., Pangburn, M. K., Rice, P. A., & Ram, S. (2010). An evaluation of the role of properdin in alternative pathway activation on Neisseria meningitidis and Neisseria gonorrhoeae. J Immunol, 185(1), 507-516. https://doi.org/10.4049/jimmunol.0903598
Åhlin, A., Fugeläng, J., de Boer, M., Ringden, O., Fasth, A., & Winiarski, J. (2013). Chronic granulomatous disease-haematopoietic stem cell transplantation versus conventional treatment. Acta Paediatr, 102(11), 1087-1094. https://doi.org/10.1111/apa.12384
Akalu, Y. T., & Bogunovic, D. (2024). Inborn errors of immunity: an expanding universe of disease and genetic architecture. Nature Reviews Genetics, 25(3), 184-195. https://doi.org/10.1038/s41576-023-00656-z
Al-Herz, W., Bousfiha, A., Casanova, J.-L., Chatila, T., Conley, M. E., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., Gaspar, H. B., Holland, S. M., Klein, C., Nonoyama, S., Ochs, H. D., Oksenhendler, E., Picard, C., Puck, J. M., Sullivan, K., & Tang, M. L. K. (2014). Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency [Classification]. Frontiers in Immunology, Volume 5 - 2014. https://doi.org/10.3389/fimmu.2014.00162
Ameratunga, R., Ahn, Y., Steele, R., & Woon, S. T. (2019). Transient hypogammaglobulinaemia of infancy: many patients recover in adolescence and adulthood. Clinical and Experimental Immunology, 198(2), 224-232. https://doi.org/10.1111/cei.13345
Ameratunga, R., Woon, S.-T., Brewerton, M., Koopmans, W., Jordan, A., Brothers, S., & Singh, R. (2011). Primary immune deficiency disorders in the South Pacific: the clinical utility of a customized genetic testing program in New Zealand. Annals of the New York Academy of Sciences, 1238(1), 53-64. https://doi.org/10.1111/j.1749-6632.2011.06238.x
Ameratunga, R., Woon, S.-T., Gillis, D., Koopmans, W., & Steele, R. (2013). New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin. Clinical and Experimental Immunology, 174(2), 203-211. https://doi.org/10.1111/cei.12178
Anderson, J. T., Cowan, J., Condino-Neto, A., Levy, D., & Prusty, S. (2022). Health-related quality of life in primary immunodeficiencies: Impact of delayed diagnosis and treatment burden. Clinical Immunology, 236, 108931. https://doi.org/10.1016/j.clim.2022.108931
APIIEG. (2009). Recommendations for the use of Immunoglobulin Replacement Therapy in Immune Deficiency. . http://www.korektorzdrowia.pl/wp-content/uploads/apiieg_2009.pdf
Aranda, C. S., Gouveia-Pereira, M. P., da Silva, C. J. M., Rizzo, M. C. F. V., Ishizuka, E., de Oliveira, E. B., & Condino-Neto, A. (2024). Severe combined immunodeficiency diagnosis and genetic defects. Immunological Reviews, 322(1), 138-147. https://doi.org/10.1111/imr.13310
Arkwright, P. D., & Gennery, A. R. (2011). Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. Annals of the New York Academy of Sciences, 1238(1), 7-14. https://doi.org/10.1111/j.1749-6632.2011.06206.x
ASCIA-TAPID. (2019). Consensus Guideline: Diagnosis, management and transplantation of severe combined immunodeficiency in Australia and New Zealand. . https://www.allergy.org.au/hp/papers/ascia-guidelines-scid-tapid
Australian Technical Advisory Group on Immunisation (ATAGI). Australian Immunisation Handbook, Australian Government Department of Health and Aged Care, Canberra, 2022, https://immunisationhandbook.health.gov.au
Ballow, M., Sánchez-Ramón, S., & Walter, J. E. (2022). Secondary Immune Deficiency and Primary Immune Deficiency Crossovers: Hematological Malignancies and Autoimmune Diseases. Front Immunol, 13, 928062. https://doi.org/10.3389/fimmu.2022.928062
Berger, M. (2011). Incidence of Infection is Inversely Related to Steady-State (Trough) Serum IgG Level in Studies of Subcutaneous IgG in PIDD. Journal of clinical immunology, 31(5), 924-926. https://doi.org/10.1007/s10875-011-9546-2
Bezrodnik, L., Gómez Raccio, A., Belardinelli, G., Regairaz, L., Díaz Ballve, D., Seminario, G., Moreira, I., Riganti, C., Cantisano, C., Díaz, H., & Di Giovanni, D. (2013). Comparative Study of Subcutaneous Versus Intravenous IgG Replacement Therapy in Pediatric Patients with Primary Immunodeficiency Diseases: A Multicenter Study in Argentina. Journal of clinical immunology, 33(7), 1216-1222. https://doi.org/10.1007/s10875-013-9916-z
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. K., & Warnatz, K. (2016). International Consensus Document (ICON): Common Variable Immunodeficiency Disorders. The Journal of Allergy and Clinical Immunology: In Practice, 4(1), 38-59. https://doi.org/10.1016/j.jaip.2015.07.025
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.,…Verbsky, J. W. (2015). Practice parameter for the diagnosis and management of primary immunodeficiency. Journal of Allergy and Clinical Immunology, 136(5), 1186-1205.e1178. https://doi.org/10.1016/j.jaci.2015.04.049
Bousfiha, A., Moundir, A., Tangye, S. G., Picard, C., Jeddane, L., Al-Herz, W., Rundles, C. C., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Oksenhendler, E., Puel, A., Puck, J., Seppänen, M. R. J., Somech, R., Su, H. C., Sullivan, K. E., Torgerson, T. R., & Meyts, I. (2022). The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. Journal of clinical immunology, 42(7), 1508-1520. https://doi.org/10.1007/s10875-022-01352-z
Bousfiha, A. A., Jeddane, L., Moundir, A., Poli, M. C., Aksentijevich, I., Cunningham-Rundles, C., Hambleton, S., Klein, C., Morio, T., Picard, C., Puel, A., Rezaei, N., Seppänen, M. R. J., Somech, R., Su, H. C., Sullivan, K. E., Torgerson, T. R., Tangye, S. G., & Meyts, I. (2025). The 2024 update of IUIS phenotypic classification of human inborn errors of immunity. Journal of Human Immunity, 1(1), e20250002. https://doi.org/10.70962/jhi.20250002
Bucciol, G., Delafontaine, S., Meyts, I., & Poli, C. (2024). Inborn errors of immunity: A field without frontiers. Immunological Reviews, 322(1), 15-27. https://doi.org/10.1111/imr.13297
Buchbinder, D., Nugent, D. J., & Fillipovich, A. H. (2014). Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet, 7, 55-66. https://doi.org/10.2147/tacg.S58444
Buckley, R. H. (2002). Primary cellular immunodeficiencies. J Allergy Clin Immunol, 109(5), 747-757. https://doi.org/10.1067/mai.2002.123617
Cardenas-Morales, M., & Hernandez-Trujillo, V. P. (2022). Agammaglobulinemia: from X-linked to Autosomal Forms of Disease. Clin Rev Allergy Immunol, 63(1), 22-35. https://doi.org/10.1007/s12016-021-08870-5
Casanova, J.-L., & Abel, L. (2007). Primary Immunodeficiencies: A Field in Its Infancy. Science, 317(5838), 617-619. https://doi.org/doi:10.1126/science.1142963
Casanova, J.-L., & Abel, L. (2022). From rare disorders of immunity to common determinants of infection: Following the mechanistic thread. Cell, 185(17), 3086-3103. https://doi.org/10.1016/j.cell.2022.07.004
Casanova, J.-L., & Anderson, M. S. (2023). Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs. The Journal of Clinical Investigation, 133(3). https://doi.org/10.1172/JCI166283
Casanova, J.-L., Conley, M. E., Seligman, S. J., Abel, L., & Notarangelo, L. D. (2014). Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. Journal of Experimental Medicine, 211(11), 2137-2149. https://doi.org/10.1084/jem.20140520
Castagnoli, R., Delmonte, O. M., Calzoni, E., & Notarangelo, L. D. (2019). Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives. Front Pediatr, 7, 295. https://doi.org/10.3389/fped.2019.00295
Cavazzana-Calvo, M., Hacein-Bey, S., Basile, G. d. S., Gross, F., Yvon, E., Nusbaum, P., Selz, F., Hue, C., Certain, S., Casanova, J.-L., Bousso, P., Deist, F. L., & Fischer, A. (2000). Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science, 288(5466), 669-672. https://doi.org/doi:10.1126/science.288.5466.669
Chan, A., Scalchunes, C., Boyle, M., & Puck, J. M. (2011). Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey. Clin Immunol, 138(1), 3-8. https://doi.org/10.1016/j.clim.2010.09.010
Chapel, H., Prevot, J., Gaspar, H. B., Español, T., Bonilla, F. A., Solis, L., & Drabwell, J. (2014). Primary Immune Deficiencies – Principles of Care [Hypothesis and Theory]. Frontiers in Immunology, Volume 5 - 2014. https://doi.org/10.3389/fimmu.2014.00627
Chen, R., Lukianova, E., van der Loeff, I. S., Spegarova, J. S., Willet, J. D. P., James, K. D., Ryder, E. J., Griffin, H., IJspeert, H., Gajbhiye, A., Lamoliatte, F., Marin-Rubio, J. L., Woodbine, L., Lemos, H., Swan, D. J., Pintar, V., Sayes, K., Ruiz-Morales, E. R., Eastham, S.,…Hambleton, S. (2024). NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome. Science Immunology, 9(95), eade5705. https://doi.org/doi:10.1126/sciimmunol.ade5705
Chinnici, A., Beneforti, L., Pegoraro, F., Trambusti, I., Tondo, A., Favre, C., Coniglio, M. L., & Sieni, E. (2023). Approaching hemophagocytic lymphohistiocytosis [Review]. Frontiers in Immunology, Volume 14 - 2023. https://doi.org/10.3389/fimmu.2023.1210041
Chong-Neto, H. J., Radwan, N., Condino-Neto, A., Rosário Filho, N. A., Ortega-Martell, J. A., & El-Sayed, Z. A. (2024). Newborn screening for inborn errors of immunity: The status worldwide. World Allergy Organ J, 17(6), 100920. https://doi.org/10.1016/j.waojou.2024.100920
Cinetto, F., Neri, R., Vianello, F., Visentin, A., Barilà, G., Gianese, S., Lanciarotta, A., Milito, C., Rattazzi, M., Piazza, F., Trentin, L., Zambello, R., Agostini, C., & Scarpa, R. (2021). Subcutaneous immunoglobulins replacement therapy in secondary antibody deficiencies: Real life evidence as compared to primary antibody deficiencies. PLoS One, 16(3), e0247717. https://doi.org/10.1371/journal.pone.0247717
Cole, T., McLean‐Tooke, A., Loh, R., Quinn, P., Peake, J., Sinclair, J., & Smart, J. . (2018). P48: ASCIA TRANSPLANTATION AND PRIMARY IMMUNODEFICIENCY (TAPID) PROJECT. Internal Medicine Journal, 48(S6), 18-19. https://doi.org/10.1111/imj.48_14077
Cole, T., Pearce, M. S., Cant, A. J., Cale, C. M., Goldblatt, D., & Gennery, A. R. (2013). Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation. Journal of Allergy and Clinical Immunology, 132(5), 1150-1155. https://doi.org/10.1016/j.jaci.2013.05. ng the Lives of People With Primary Immunodeficiencies (PI) With Early Testing and Diagnosis. Front Immunol, 9, 1439. https://doi.org/10.3389/fimmu.2018.01439
Cooper, M. A., Pommering, T. L., & Korányi, K. (2003). Primary immunodeficiencies. Am Fam Physician, 68(10), 2001-2008.
Coss, S. L., Zhou, D., Chua, G. T., Aziz, R. A., Hoffman, R. P., Wu, Y. L., Ardoin, S. P., Atkinson, J. P., & Yu, C.-Y. (2023). The complement system and human autoimmune diseases. Journal of Autoimmunity, 137, 102979. https://doi.org/10.1016/j.jaut.2022.102979
Cunningham-Rundles, C. (2012). The many faces of common variable immunodeficiency. Hematology Am Soc Hematol Educ Program, 2012, 301-305. https://doi.org/10.1182/asheducation-2012.1.301
Dahl, C., Petersen, I., Ilkjær, F. V., Westh, L., Katzenstein, T. L., Hansen, A.-B. E., Nielsen, T. L., Larsen, C. S., Johansen, I. S., & Rasmussen, L. D. (2023). Missed Opportunities to Diagnose Common Variable Immunodeficiency: a Population-Based Case–Control Study Identifying Indicator Diseases for Common Variable Immunodeficiency. Journal of clinical immunology, 43(8), 2104-2114. https://doi.org/10.1007/s10875-023-01590-9
De Decker, H. P., & Lawrenson, J. B. (2001). The 22q11.2 deletion: From diversity to a single gene theory. Genetics in Medicine, 3(1), 2-5. https://doi.org/10.1097/00125817-200101000-00002
Dvorak, C. C., Haddad, E., Heimall, J., Dunn, E., Buckley, R. H., Kohn, D. B., Cowan, M. J., Pai, S. Y., Griffith, L. M., Cuvelier, G. D. E., Eissa, H., Shah, A. J., O'Reilly, R. J., Pulsipher, M. A., Wright, N. A. M., Abraham, R. S., Satter, L. F., Notarangelo, L. D., & Puck, J. M. (2023). The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol, 151(2), 539-546. https://doi.org/10.1016/j.jaci.2022.10.022
EBMT/ESID. (2017). EBMT/ESID Guidelines for haematopoietic stem cell transplantation (HSCT) for primary immunodeficiencies HSCT Guidelines. https://www.ebmt.org/ebmt/documents/esid-ebmt-hsct-guidelines-2017
Fernández-Cruz, E., Alecsandru, D., & Ramón, S. S. (2009). Mechanisms of action of immune globulin. Clinical and Experimental Immunology, 157(Supplement_1), 1-2. https://doi.org/10.1111/j.1365-2249.2009.03955.x
Firatoglu, H., Aytekin, C., Dogu, F., Bal, S. K., Haskologlu, S., Boztug, K., & Ikinciogullari, A. (2025). Evaluation of Patients with Combined Immunodeficiency: A Single Center Experience. Iran J Immunol, 22(1), 89-99. https://doi.org/10.22034/iji.2025.103499.2844
Fischer, A. (2000). Severe combined immunodeficiencies (SCID). Clin Exp Immunol, 122(2), 143-149. https://doi.org/10.1046/j.1365-2249.2000.01359.x
Fischer, A., & Rausell, A. (2018). What do primary immunodeficiencies tell us about the essentiality/redundancy of immune responses? Seminars in Immunology, 36, 13-16. https://doi.org/10.1016/j.smim.2017.12.001
Fomin, A. B., Pastorino, A. C., Kim, C. A., Pereira, C. A., Carneiro-Sampaio, M., & Abe-Jacob, C. M. (2010). DiGeorge Syndrome: a not so rare disease. Clinics (Sao Paulo), 65(9), 865-869. https://doi.org/10.1590/s1807-59322010000900009
Fornes, O., Jia, A., Kuehn, H. S., Min, Q., Pannicke, U., Schleussner, N., Thouenon, R., Yu, Z., de los Angeles Astbury, M., Biggs, C. M., Galicchio, M., Garcia-Campos, J. A., Gismondi, S., Gonzalez Villarreal, G., Hildebrand, K. J., Hönig, M., Hou, J., Moshous, D., Pittaluga, S.,…Wang, J.-Y. (2023). A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency. Science Immunology, 8(79), eade7953. https://doi.org/doi:10.1126/sciimmunol.ade7953
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Gardulf, A. (2007). Immunoglobulin treatment for primary antibody deficiencies: advantages of the subcutaneous route. BioDrugs, 21(2), 105-116. https://doi.org/10.2165/00063030-200721020-00005
Gaspar, J., Gerritsen, B., & Jones, A. (1998). Immunoglobulin replacement treatment by rapid subcutaneous infusion. Archives of Disease in Childhood, 79(1), 48. https://doi.org/10.1136/adc.79.1.48
George, M. R. (2014). Hemophagocytic lymphohistiocytosis: review of etiologies and management. J Blood Med, 5, 69-86. https://doi.org/10.2147/jbm.S46255
Gray, P. E. A., Namasivayam, M., & Ziegler, J. B. (2012). Recurrent infection in children: When and how to investigate for primary immunodeficiency? Journal of Paediatrics and Child Health, 48(3), 202-209. https://doi.org/10.1111/j.1440-1754.2011.02080.x
Grosserichter-Wagener, C., Franco-Gallego, A., Ahmadi, F., Moncada-Vélez, M., Dalm, V. A. S. H., Rojas, J. L., Orrego, J. C., Correa Vargas, N., Hammarström, L., Schreurs, M. W. J., Dik, W. A., van Hagen, P. M., Boon, L., van Dongen, J. J. M., van der Burg, M., Pan-Hammarström, Q., Franco, J. L., & van Zelm, M. C. (2020). Defective formation of IgA memory B cells, Th1 and Th17 cells in symptomatic patients with selective IgA deficiency. Clinical & Translational Immunology, 9(5), e1130. https://doi.org/10.1002/cti2.1130
Gruber, C., & Bogunovic, D. (2020). Incomplete penetrance in primary immunodeficiency: a skeleton in the closet. Hum Genet, 139(6-7), 745-757. https://doi.org/10.1007/s00439-020-02131-9
Guérin, A., Kerner, G., Marr, N., Markle, J. G., Fenollar, F., Wong, N., Boughorbel, S., Avery, D. T., Ma, C. S., Bougarn, S., Bouaziz, M., Béziat, V., Della Mina, E., Oleaga-Quintas, C., Lazarov, T., Worley, L., Nguyen, T., Patin, E., Deswarte, C.,…Casanova, J.-L. (2018). IRF4 haploinsufficiency in a family with Whipple’s disease. eLife, 7, e32340. https://doi.org/10.7554/eLife.32340
Guo, Y., Tian, X., Wang, X., & Xiao, Z. (2018). Adverse Effects of Immunoglobulin Therapy. Front Immunol, 9, 1299. https://doi.org/10.3389/fimmu.2018.01299
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Heimall, J., & Cowan, M. J. (2017). Long term outcomes of severe combined immunodeficiency: therapy implications. Expert Rev Clin Immunol, 13(11), 1029-1040. https://doi.org/10.1080/1744666x.2017.1381558
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Inwald, D. P., Peters, M. J., Walshe, D., Jones, A., Davies, E. G., & Klein, N. J. (2000). Absence of platelet CD40L identifies patients with X-linked hyper IgM syndrome. Clin Exp Immunol, 120(3), 499-502. https://doi.org/10.1046/j.1365-2249.2000.01235.x
Israel, L., Wang, Y., Bulek, K., Della Mina, E., Zhang, Z., Pedergnana, V., Chrabieh, M., Lemmens, N. A., Sancho-Shimizu, V., Descatoire, M., Lasseau, T., Israelsson, E., Lorenzo, L., Yun, L., Belkadi, A., Moran, A., Weisman, L. E., Vandenesch, F., Batteux, F.,…Puel, A. (2017). Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity. Cell, 168(5), 789-800.e710. https://doi.org/10.1016/j.cell.2017.01.039
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NOTE: There is a separate ASCIA reference list for Hereditary Angioedema (HAE) publications on the ASCIA website www.allergy.org.au/hp/papers#p4
Content updated May 2025