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  • Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarstrom L, Nonoyama S, Notarangelo LD, Ochs HD, Puck JM, Roifman CM, Seger R, Tang ML. 2011. Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2:54.
  • Bonilla FA, Bernstein IL, Khan DA, Ballas ZK, Chinen J, Frank MM, Kobrynski LJ, Levinson AI, Mazer B, Nelson RP Jr, Orange JS, Routes JM, Shearer WT, Sorensen RU, American Acadamy of Allergy, Asthma and Immunology, American College of Allergy, Asthma and Immunology, Joint council of Allergy, Asthma and Immunology. 2005. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 94:S1S63.
  • Gropman AL, Rogol A, Fennoy I, Sadeghin T, Sinn S, Jameson R, mitchell F, Clabaugh J, Lutz-Armstrong M, Samango-Sproues CA. 2010. Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome. Am J Med Genet Part A 152A:15231530.
  • Hou JW. 2004. Inherited tandem duplication of the X chromosome: Dup(X)(q13.2–q21.2) in a family. Chang Gung Med J 27:685690.
  • Kurtyka ZE, Krzykwa B, Piatkowska E, Radwan M, Pietrzyk JJ. 1988. Trisomy 8 mosaicism syndrome. Two cases demonstrating variability in phenotype. Clin Pediatr (Phila) 27:557564.
  • Oktenli C, Yesilova Z, Kocar IH, Musabak U, Ozata M, Inal A, Gul D, Sanisoglu Y. 2002. Study of autoimmunity in Klinefelter's syndrome and idiopathic hypogonadotropic hypogonadism. J Clin Immunol 22:137143.
  • Orange JS, Glessner JT, Resnick E, Sullican 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. 2011. Genome-wide association identifies diverse causes of common variable immunodeficiency. J Allergy Clin Immunol 127:13601367, e1366.
  • Orange JS, Ballow M, Stiehm ER, Ballas ZK, Chinen J, De La Morena M, Kumararatne D, Harville TO, Hesterberg P, Koleilat M, McGhee S, Perez EE, Raasch J, Scherzer R, Schroeder H, Seroogy C, Huissoon A, Sorensen RU, Katial R. 2012. Use and interpretation of diagnostic vaccination in primary immunodeficiency: A working group report of the Basic and Clinical Immunology Interest Section of the American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol 130:S1S24.
  • Ram G, Chinen J. 2011. Infections and immunodeficiency in Down syndrome. Clin Exp Immunol 164:916.
  • Schwanitz G, Zerres K. 1987. Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome. Ann Genet 30:8084.
  • Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 2011. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: Not just variants of Klinefelter syndrome. Acta Paediatr 100:851860.
  • Yong PL, Boyle J, Ballow M, Boyle M, Bleesing J, Bonilla FA, Chinen J, Cunningham-Rundles C, Fuleihan R, Nelson L, Wasserman RL, Williams KC, Orange JS. 2010. Use of intravenous immunoglobulin and adjunctive therapies in the treatment of primary immunodeficiency: A working group report of and study by the Primary Immunodeficiency Committee of the American Academy of Allergy Asthma and Immunology. Clin Immunol 135:255263.
  • Yu HR, Yang MY, Yeh WT, Yang KD. 2000. Common variable immunodeficiency with mosaic trisomy 8: Report of one case. Acta Paediatr Taiwan 41:331335.