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Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015;136:1186-1205.

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Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Ann Rev Immunol. 2004:22:625-655.

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Geha RS, Notarangelo LD, Casanova JL, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007;120:776-794.

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International Union of Immunological Societies. Primary immunodeficiency diseases: report of an IUIS Scientific Committee. Clin Exp Immunol. 1999;118(suppl 1):1-28.

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Stiehm RE, Ochs HD, Winkelstein JA. Immunologic disorders in infants and children, 5th edition. Pennsylvania: Saunders; 2004.

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2.  Routes J, Abinun M, Al-Herz W, et al. ICON: The early diagnosis of congenital immunodeficiencies. J Clin Immunol. 2014;34:398-424.

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3.  Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Ann Rev Immunol. 2004:22:625-655.

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4.  Cunningham-Rundles C, Ponda PP. Molecular defects in T- and B-cell primary immunodeficiency diseases. Nat Rev Immunol. 2005:5:880-892.

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7.  International Union of Immunological Societies. Primary immunodeficiency diseases: report of an IUIS Scientific Committee. Clin Exp Immunol. 1999;118(suppl 1):1-28.

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16.  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. 2004:6:16-26.

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17.  Leiva LE, Zelazco M, Oleastro M, et al. Primary immunodeficiency diseases in Latin America: the second report of the LAGID registry. J Clin Immunol. 2007;27:101-108.

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18.  Michos A, Tzanoudaki M, Villa A, et al. Severe combined immunodeficiency in Greek children over a 20-year period: rarity of γ(c)-chain deficiency (X-linked) type. J Clin Immunol. 2011;31:778-783.

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19.  Yee A, De Ravin SS, Elliott E, et al. Severe combined immunodeficiency: a national surveillance study. Pediatr Allergy Immunol. 2008;19:298-302.

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20.  Suliaman F, Al-Ghonaium A, Harfi H, et al. High incidence of severe combined immune deficiency in the Eastern province of Saudi Arabia. Pediatr Asthma All Immunol. 2006;19:14-18.

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22.  Dalal I, Grunebaum E, Cohen A, et al. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. Clin Genet. 2001:59:430-437.

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24.  Diamond CE, Sanchez MJ, LaBelle JL. Diagnostic criteria and evaluation of severe combined immunodeficiency in the neonate. Pediatr Ann. 2015;44:e181-e187.

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25.  Chinen J, Shearer WT. 6. Secondary immunodeficiencies, including HIV infection. J Allergy Clin Immunol. 2008:121(2 Suppl):S388-S392.

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26.  Stiehm RE, Ochs HD, Winkelstein JA. Immunologic disorders in infants and children, 5th edition. Pennsylvania: Saunders; 2004.

27.  Buck D, Moshous D, de Chasseval R, et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006:36:224-235.

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28.  Masuda Y, Kamiya K. Molecular nature of radiation injury and DNA repair disorders associated with radiosensitivity. Int J Hematol. 2012;95:239-245.

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29.  Adachi N, Ishino T, Ishii Y, et al. DNA ligase IV-deficient cells are more resistant to ionizing radiation in the absence of Ku70: Implications for DNA double-strand break repair. Proc Natl Acad Sci U S A. 2001:98:12109-12113.

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30.  Zha S, Alt FW, Cheng HL, et al. Defective DNA repair and increased genomic instability in Cernunnos-XLF-deficient murine ES cells. Proc Natl Acad Sci U S A. 2007:104:4518-4523.

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31.  Krishna MT, Tarrant JL, Cheadle EA, et al. An audit of lymphopenia in infants under 3 months of age. Arch Dis Child. 2008; 93;90-91.

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32.  Manson D, Diamond L, Oudjhane K, et al. Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life. Pediatr Radiol. 2013;43:589-592.

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33.  Gennery AR, Cant AJ. Diagnosis of severe combined immunodeficiency. J Clin Pathol. 2001:54:191-195.

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34.  Daguindau N, Decot V, Nzietchueng R, et al. Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: an eight-year follow-up. Clin Immunol. 2008;128:164-171.

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35.  Mitchell A, Mahnke DK, Larson JM, et al. Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol Genomics. 2010;42A:52-60.

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36.  Orange JS, Brodeur SR, Jain A, et al. Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. J Clin Invest. 2002:109:1501-1509.

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37.  Shearer WT, Dunn E, Notarangelo LD, et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol. 2014;133:1092-1098.

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38.  Chase NM, Verbsky JW, Routes JM. Newborn screening for SCID: three years of experience. Ann N Y Acad Sci. 2011;1238:99-105.

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39.  Routes JM, et al. Update of statewide newborn screening program for severe combined immunodeficiency (SCID) by T-cell receptor excision circles (TRECs). J Allergy Clin Immunol. 2009:123:S68.

40.  Filipovich A. Hematopoietic cell transplantation for correction of primary immunodeficiencies. Bone Marrow Transplant. 2008:42(Suppl 1):S49-S52.

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41.  Farinelli G, Capo V, Scaramuzza S, et al. Lentiviral vectors for the treatment of primary immunodeficiencies. J Inherit Metab Dis. 2014;37:525-533.

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42.  Dvorak CC, Cowan MJ. Hematopoietic stem cell transplantation for primary immune deficiency disease. Bone Marrow Transplant. 2008;41:119-126.

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43.  Buckley RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res. 2011;49:25-43.

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44.  Pai SY, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med. 2014;371:434-446.

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45.  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. 2008:122:1087-1096.

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46.  Grunebaum E, Mazzolari E, Porta F, et al. Bone marrow transplantation for severe combined immune deficiency. JAMA. 2006:295:508-518.

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47.  Griffith LM, Cowan MJ, Notarangelo LD, et al. Primary immune deficiency treatment consortium (PIDTC) report. J Allergy Clin Immunol. 2014;133:335-347.

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48.  Bakare N, Menschik D, Tiernan R, et al. Severe combined immunodeficiency (SCID) and rotavirus vaccination: reports to the Vaccine Adverse Events Reporting System (VAERS). Vaccine. 2010;28:6609-6612.

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49.  Chan B, Wara D, Bastian J, et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin Immunol. 2005:117:133-143.

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50.  Booth C, Hershfield M, Notarangelo L, et al. Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). Clin Immunol. 2007;123:139-147.

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51.  Gaspar HB, Aiuti A, Porta F, et al. How I treat ADA deficiency. Blood. 2009;114:3524-3532.

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52.  Sokolic R, Kesserwan C, Candotti F. Recent advances in gene therapy for severe congenital immunodeficiency diseases. Curr Opin Hematol. 2008:15:375-380.

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53.  Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science. 2002:296:2410-2413.

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54.  Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009:360:447-458.

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55.  Antoine C, Muller S, Cant A, et al. European Group for Blood and Marrow Transplantation; European Society for Immunodeficiency. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies; report of the European experience 1968-99. Lancet. 2003:361:541-542.

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