Severe combined immunodeficiency in Greek children over a 20-year period: Rarity of γ c-chain deficiency (X-linked) type

Journal of Clinical Immunology

Volumn 31, Issue 5, 2011, Pages 778-783

  Michos, Athanasios ^a,b   Tzanoudaki, Marianna ^a   Villa, Anna ^c,d   Giliani, Silvia ^e   Chrousos, George ^b   Kanariou, Maria ^a  

^a AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^b UNIVERSITY OF ATHENS   (Greece)

^c CNR   (Italy)

^d San Raffaele Tel Inst Gene Therapy   (Italy)

^e UNIVERSITY OF BRESCIA   (Italy)

Author keywords

common chain; immunophenotype; molecular diagnosis; Primary immunodeficiency; SCID

Indexed keywords

IMMUNOGLOBULIN HEAVY CHAIN; JANUS KINASE 3; RAG1 PROTEIN;

ADENOSINE DEAMINASE DEFICIENCY; ARTICLE; B LYMPHOCYTE; BONE MARROW TRANSPLANTATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; FEMALE; GENE MUTATION; GREECE; HUMAN; IMMUNOPHENOTYPING; INCIDENCE; INFANT; MALE; MOLECULAR DIAGNOSIS; NATURAL KILLER CELL; NEWBORN; OMENN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; RETROSPECTIVE STUDY; SCHOOL CHILD; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE;

CHILD; CHILD, PRESCHOOL; DEMOGRAPHY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETICS, POPULATION; GREECE; HUMANS; IMMUNOPHENOTYPING; INCIDENCE; INFANT; INFANT, NEWBORN; INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT; MALE; MUTATION; RETROSPECTIVE STUDIES; X-LINKED COMBINED IMMUNODEFICIENCY DISEASES;

EID: 80755133625     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-011-9564-0     Document Type: Article

References (20)

1. A Fischer F Le Deist S Hacein-Bey-Abina, et al. 2005 Severe combined immunodeficiency. A model disease for molecular immunology and therapy Immunol Rev. 203 98 109 15661024 10.1111/j.0105-2896.2005.00223.x 1:CAS:528: DC%2BD2MXhvFyns78%3D (Pubitemid 40179696)
2. JL Stephan V Vlekova F Le Deist, et al. 1993 Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients J Pediatr. 123 564 572 8410508 10.1016/S0022- 3476(05)80951-5 1:STN:280:DyaK2c%2FhsFKrug%3D%3D (Pubitemid 23287526)
3. RH Buckley RI Schiff SE Schiff, et al. 1997 Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in 108 infants J Pediatr. 130 378 387 9063412 10.1016/S0022-3476(97)70199-9 1:STN:280: DyaK2s3hsleqsw%3D%3D (Pubitemid 27492681)
4. RH Buckley 2004 The multiple causes of human SCID J Clin Invest. 114 1409 1411 15545990 1:CAS:528:DC%2BD2cXpvFOqsL4%3D (Pubitemid 40385570)
5. B Gathmann B Grimbacher J Beaute, et al. 2009 The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008 Clin Exp Immunol. 157 Suppl 1 3 11 19630863 10.1111/j.1365-2249.2009.03954.x
6. A Fischer 2000 Severe combined immunodeficiencies (SCID) Clin Exp Immunol. 122 143 149 11091267 10.1046/j.1365-2249.2000.01359.x 1:STN:280:DC%2BD3M%2FltVWgsQ%3D%3D
7. LD Notarangelo A Fischer RS Geha, et al. 2009 Primary immunodeficiencies: 2009 update J Allergy Clin Immunol. 124 1161 1178 20004777 10.1016/j.jaci.2009. 10.013 1:CAS:528:DC%2BD1MXhsFGrtrbI
8. JP de Villartay 2009 V(D)J recombination deficiencies Adv Exp Med Biol 650 46 58 19731800 10.1007/978-1-4419-0296-2-4
9. A Yee SS De Ravin E Elliott JB Ziegler 2008 Severe combined immunodeficiency: a national surveillance study Pediatr Allergy Immunol. 19 298 302 18221464 10.1111/j.1399-3038.2007.00646.x (Pubitemid 351691432)
10. O Ryser A Morell WH Hitzig 1988 Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children J Clin Immunol. 8 479 485 3065352 10.1007/BF00916954 1:STN:280:DyaL1M7itlOnsA%3D%3D (Pubitemid 19009011)
11. A Fasth 1982 Primary immunodeficiency disorders in Sweden: cases among children, 1974-1979 J Clin Immunol. 2 86 92 6978347 10.1007/BF00916891 1:STN:280:DyaL387msl2msA%3D%3D (Pubitemid 13227800)
12. M Yeganeh M Heidarzade Z Pourpak, et al. 2008 Severe combined immunodeficiency: a cohort of 40 patients Pediatr Allergy Immunol. 19 303 306 18093084 10.1111/j.1399-3038.2007.00647.x (Pubitemid 351691433)
13. EA Lipstein S Vorono MF Browning, et al. 2010 Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency Pediatrics. 125 e1226 e1235 20403930 10.1542/peds.2009-1567
14. JM Puck 2007 Neonatal screening for severe combined immune deficiency Curr Opin Allergy Clin Immunol. 7 522 527 17989529 10.1097/ACI.0b013e3282f14a2a (Pubitemid 350076448)
15. SA McGhee ER Stiehm ER McCabe 2005 Potential costs and benefits of newborn screening for severe combined immunodeficiency J Pediatr. 147 603 608 16291349 10.1016/j.jpeds.2005.06.001 (Pubitemid 41598331)
16. AM Comeau JE Hale SY Pai, et al. 2010 Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency J Inherit Metab Dis. 33 Suppl 2 S273 81 20490925 10.1007/s10545-010-9103-9
17. DC Cassimos M Liatsis A Stogiannidou MG Kanariou 2009 Children with frequent infections: A proposal for a stepwise assessment and investigation of the immune system Pediatr Allergy Immunol. 21 3 463 73 19922449 10.1111/j.1399-3038.2009.00964.x
18. E de Vries 2006 Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists Clin Exp Immunol. 145 204 14 16879238 10.1111/j.1365-2249.2006.03138.x (Pubitemid 44060109)
19. AM Eades-Perner B Gathmann V Knerr, et al. 2007 The European internet-based patient and research database for primary immunodeficiencies: results 2004-06 Clin Exp Immunol. 147 306 12 17223972 10.1111/j.1365-2249.2006. 03292.x (Pubitemid 46096009)
20. D Guzman D Veit V Knerr, et al. 2007 The ESID Online Database network Bioinformatics. 23 654 5 17237056 10.1093/bioinformatics/btl675 1:CAS:528:DC%2BD2sXkt1GhsLY%3D (Pubitemid 46522608)