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Titolo:
IMMUNODEFICIENCY AS A COMPONENT OF RECOGNIZABLE SYNDROMES
Autore:
MING JE; STIEHM ER; GRAHAM JM;
Indirizzi:
CEDARS SINAI MED CTR,MED GENET BIRTH DEFECTS CTR,444 S SAN VICENTE BLVD,SUITE 1001 LOS ANGELES CA 90048 UNIV CALIF LOS ANGELES,SCH MED,CEDARS SINAI RES INST,MED GENET BIRTH DEFECTS CTR LOS ANGELES CA 00000 UNIV CALIF LOS ANGELES,SCH MED,DEPT PEDIAT,DIV IMMUNOL LOS ANGELES CA90024 CHILDRENS HOSP LOS ANGELES,DEPT PEDIAT LOS ANGELES CA 90027
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 66, anno: 1996,
pagine: 378 - 398
SICI:
0148-7299(1996)66:4<378:IAACOR>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
WISKOTT-ALDRICH SYNDROME; CARTILAGE-HAIR HYPOPLASIA; GROWTH-HORMONE DEFICIENCY; KILLER-CELL-ACTIVITY; GLUTATHIONE SYNTHETASE DEFICIENCY; CHROMOSOMAL INSTABILITY DISORDER; TRANSCOBALAMIN-II DEFICIENCY; HEREDITARY OROTIC ACIDURIA; NIJMEGEN BREAKAGE SYNDROME; CONGENITAL HEART-DISEASE;
Keywords:
IMMUNODEFICIENCY SYNDROMES; GROWTH DISORDERS; T CELLS; CELLULAR IMMUNITY; B CELLS; HUMORAL IMMUNITY;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
151
Recensione:
Indirizzi per estratti:
Citazione:
J.E. Ming et al., "IMMUNODEFICIENCY AS A COMPONENT OF RECOGNIZABLE SYNDROMES", American journal of medical genetics, 66(4), 1996, pp. 378-398

Abstract

Immunodeficiency occurs in numerous genetic syndromes. While it is the dominant manifestation in primary immunodeficiencies, immune deficits may also be seen in a variety of other recognizable syndromes. Immunodeficiency has been reported in 64 such conditions, adding to the 45 recognized primary immunodeficiencies. These uncommon syndromes with immune defects can present with: (a) growth deficiency (II syndromes with disproportionate or proportionate short stature), (b) specific organ system dysfunction (18 with gastrointestinal, dermatologic, or neurologic abnormalities), (c) inborn errors of metabolism (13), (d) miscellaneous anomalies (10), or (e) chromosome anomalies (12). In most of the disorders, only some of the affected patients have immune defects. However, in 21 syndromes, immunodeficiency is a constant finding. We briefly review the clinical manifestations of each syndrome and delineate the specific associated immune defects. In most syndromes, the connection between the immune and other defects is unknown. Recognition ofthese conditions involving both the immune and other organ systems may facilitate accurate diagnosis and management as well as yield information regarding genes critical for the development of the involved systems. (C) 1996 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 01:21:26