Incidence of typically Severe Primary Immunodeficiency Diseases in Consanguineous and Non-consanguineous Populations

Journal of Clinical Immunology

Volumn 37, Issue 3, 2017, Pages 295-300

  Broides, Arnon ^a,b   Nahum, Amit ^a,b   Mandola, Amarilla B ^a,b   Rozner, Lihi ^b   Pinsk, Vered ^a,b   Ling, Galina ^a,b   Yerushalmi, Baruch ^a,b   Levy, Jacov ^a,b   Givon Lavi, Noga ^a,b  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

Consanguinity; Ethnicity; Immunodeficiency; Incidence

Indexed keywords

INTERLEUKIN 10 RECEPTOR;

ARTICLE; ATAXIA; BEDOUIN; CHRONIC GRANULOMATOUS DISEASE; CLINICAL EVALUATION; COMBINED IMMUNODEFICIENCY; COMMON VARIABLE IMMUNODEFICIENCY; COMPARATIVE STUDY; CONSANGUINITY; CONTROLLED STUDY; DISEASE SEVERITY; DYSKERATOSIS CONGENITA; ETHNIC GROUP; HUMAN; HYPER IGE SYNDROME; IMMUNE DEFICIENCY; INCIDENCE; INFLAMMATORY BOWEL DISEASE; IPEX SYNDROME; ISRAEL; JEW; LIVE BIRTH; MAJOR CLINICAL STUDY; NEWBORN; POPULATION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEVERE COMBINED IMMUNODEFICIENCY; SEVERE CONGENITAL NEUTROPENIA; TELANGIECTASIA; X LINKED AGAMMAGLOBULINEMIA; ARAB; FEMALE; GENETIC PREDISPOSITION; HEALTH SURVEY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; IMMUNOLOGIC DEFICIENCY SYNDROMES; JUDAISM; MALE; MUTATION; SEVERITY OF ILLNESS INDEX;

ARABS; CONSANGUINITY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INCIDENCE; JUDAISM; MALE; MUTATION; POPULATION SURVEILLANCE; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX;

EID: 85015165537     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-017-0378-6     Document Type: Article

References (19)

1. Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency. J Clin Immunol. 2015;35:696–726.
2. Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore). 2006;85:193–202.
3. Winkelstein JA, Marino MC, Johnston RB, Boyle J, Curnutte JT, Gallin JI, et al. Chronic, granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000;79:155–69.
4. Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT. The incidence and Gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet. 1986;39:573–83.
5. Henter JI, Aricò M, Elinder G, Imashuku S, Janka G. Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am. 1998;12:417–33.
6. Henter JI. Pronounced hyperferritinemia: expanding the field of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2008;50:1127–9.
7. Miguel AP, James TL, John BH, Daniel EM, Roshini SA. Common variable immunodeficiency: a new look at an old disease. Lancet. 2008;372:489–502.
8. Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312:729–38.
9. Leutenegger AL, Sahbatou M, Gazal S, Cann H, Génin E. Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? Eur J Hum Genet. 2011;19:583–7.
10. Al-Saud B, Al-Mousa H, Al Gazlan S, Al-Ghonaium A, Arnaout R, Al-Seraihy A, et al. Primary immunodeficiency diseases in Saudi Arabia: a tertiary care hospital experience over a period of three years (2010-2013). J Clin Immunol. 2015;35:651–60.
11. Na’amnih W, Romano-Zelekha O, Kabaha A, Rubin LP, Bilenko N, Jaber L, et al. Prevalence of consanguineous marriages and associated factors among Israeli Bedouins. J Community Genet. 2014;5:395–8.
12. Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, TO H, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997;130:378–87.
13. Kwan A, Hu D, Song M, Gomes H, Brown DR, Bourque T, et al. Successful newborn screening for SCID in the Navajo nation. Clin Immunol. 2015;158:29–34.
14. Broides A, Mandola AB, Levy J, Yerushalmi B, Pinsk V, Eldan M, et al. The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation. Immunol Res. 2017; doi:10.1007/s12026-016-8883-x.
15. Wolach B, Gavrieli R, de Boer M, Gottesman G, Ben-Ari J, Rottem M, et al. Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients. Clin Immunol. 2008;129:103–14.
16. Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). 2000;79:170–200.
17. Ahlin A, De Boer M, Roos D, Leusen J, Smith CI. Sundin U, et al prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden. Acta Paediatr. 1995;84:1386–94.
18. Leiva LE, Zelazco M, Oleastro M, Carneiro-Sampaio M, Condino-Neto A, Costa-Carvalho BT, et al. Latin American Group for Primary Immunodeficiency Diseases. Primary immunodeficiency diseases in Latin America: the second report of the LAGID registry. J Clin Immunol. 2007;27:101–8.
19. Levy A, Fraser D, Vardi H, Dagan R. Hospitalizations for infectious diseases in Jewish and Bedouin children in southern Israel. Eur J Epidemiol. 1998;14:179–86.