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Kathleen E Sullivan - One of the best experts on this subject based on the ideXlab platform.
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chArge colobomA heArt defect AtresiA choAnAe retArded growth And development genitAl hypoplAsiA eAr AnomAlies deAfness syndrome And chromosome 22q11 2 deletion syndrome A compArison of immunologic And nonimmunologic phenotypic feAtures
Pediatrics, 2009Co-Authors: Soma Jyonouchi, Donna M Mcdonaldmcginn, Elaine H Zackai, Sherri Bale, Kathleen E SullivanAbstract:OBJECTIVES. CHARGE (colobomA, heArt defect, AtresiA choAnAe, retArded growth And development, genitAl hypoplAsiA, eAr AnomAlies/deAfness) syndrome And chromosome 22q11.2 deletion syndrome Are known to hAve significAnt clinicAl overlAp including cArdiAc AnomAlies, eAr AbnormAlities, heAring loss, developmentAl delAy, renAl AbnormAlities, And cleft pAlAte. ImmunoDeficiency hAs been well documented in 22q11.2 deletion, but there hAs been limited recognition of this potentiAlly serious complicAtion in CHARGE syndrome. The goAls of our study were to identify clinicAl feAtures unique to CHARGE syndrome or 22q11.2 deletion And to describe the spectrum of immunoDeficiency found in pAtients with CHARGE syndrome. METHODS. This study included 25 children diAgnosed with CHARGE syndrome with positive CHD7 mutAtions through the Children9s HospitAl of PhilAdelphiA genetics progrAm. ClinicAl feAtures And lAborAtory findings were reviewed retrospectively. We compAred our findings to dAtA AvAilAble for A lArge cohort of pAtients with 22q11.2 deletion syndrome followed in our clinicAl genetics progrAm. RESULTS. FeAtures found more commonly in CHARGE syndrome included colobomA, choAnAl AtresiA, fAciAl nerve pAlsy, trAcheoesophAgeAl fistulA, And genitAl hypoplAsiA in boys. A high incidence of mArked hypocAlcemiA wAs observed in our study group (72%). We found A spectrum of cell-mediAted immunoDeficiency in our study group, which rAnged from lymphopeniA (60%) to severe combined immunoDeficiency (8%). Defects in humorAl immunity were documented in 4 pAtients And included severe hypogAmmAglobulinemiA with decreAsed T-cell numbers, trAnsient hypogAmmAglobulinemiA during infAncy, And Immunoglobulin A Deficiency. CONCLUSIONS. The presence of colobomA, choAnAl AtresiA, fAciAl nerve pAlsy, trAcheoesophAgeAl fistulA, or genitAl hypoplAsiA in boys should Alert the cliniciAn to the possibility of CHARGE syndrome rAther thAn the 22q11.2 deletion. MoleculAr testing for CHD7 mutAtions mAy help to confirm the diAgnosis. In this study, significAnt hypocAlcemiA And lymphopeniA occurred more frequently in pAtients with CHARGE syndrome thAn in those with 22q11.2 deletion syndrome. EArly inclusion of immunologists to the multidisciplinAry cAre teAm (As with 22q11.2 deletion) mAy be of greAt benefit to Affected pAtients.
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increAsed prevAlence of Immunoglobulin A Deficiency in pAtients with the chromosome 22q11 2 deletion syndrome digeorge syndrome velocArdiofAciAl syndrome
Clinical and Vaccine Immunology, 1998Co-Authors: Christopher A Smith, Deborah A Driscoll, Beverly S Emanuel, Donna M Mcdonaldmcginn, Elaine H Zackai, Kathleen E SullivanAbstract:We wished to determine the prevAlence of Immunoglobulin A (IgA) Deficiency in pAtients with the chromosome 22q11.2 deletion syndrome. A totAl of 32 pAtients with the chromosome 22q11.2 deletion were exAmined for IgA Deficiency. We report A 13% (n = 4) prevAlence of IgA Deficiency in pAtients with this syndrome. The odds rAtio of IgA Deficiency in this populAtion is 14.20 (P
Donna M Mcdonaldmcginn - One of the best experts on this subject based on the ideXlab platform.
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chArge colobomA heArt defect AtresiA choAnAe retArded growth And development genitAl hypoplAsiA eAr AnomAlies deAfness syndrome And chromosome 22q11 2 deletion syndrome A compArison of immunologic And nonimmunologic phenotypic feAtures
Pediatrics, 2009Co-Authors: Soma Jyonouchi, Donna M Mcdonaldmcginn, Elaine H Zackai, Sherri Bale, Kathleen E SullivanAbstract:OBJECTIVES. CHARGE (colobomA, heArt defect, AtresiA choAnAe, retArded growth And development, genitAl hypoplAsiA, eAr AnomAlies/deAfness) syndrome And chromosome 22q11.2 deletion syndrome Are known to hAve significAnt clinicAl overlAp including cArdiAc AnomAlies, eAr AbnormAlities, heAring loss, developmentAl delAy, renAl AbnormAlities, And cleft pAlAte. ImmunoDeficiency hAs been well documented in 22q11.2 deletion, but there hAs been limited recognition of this potentiAlly serious complicAtion in CHARGE syndrome. The goAls of our study were to identify clinicAl feAtures unique to CHARGE syndrome or 22q11.2 deletion And to describe the spectrum of immunoDeficiency found in pAtients with CHARGE syndrome. METHODS. This study included 25 children diAgnosed with CHARGE syndrome with positive CHD7 mutAtions through the Children9s HospitAl of PhilAdelphiA genetics progrAm. ClinicAl feAtures And lAborAtory findings were reviewed retrospectively. We compAred our findings to dAtA AvAilAble for A lArge cohort of pAtients with 22q11.2 deletion syndrome followed in our clinicAl genetics progrAm. RESULTS. FeAtures found more commonly in CHARGE syndrome included colobomA, choAnAl AtresiA, fAciAl nerve pAlsy, trAcheoesophAgeAl fistulA, And genitAl hypoplAsiA in boys. A high incidence of mArked hypocAlcemiA wAs observed in our study group (72%). We found A spectrum of cell-mediAted immunoDeficiency in our study group, which rAnged from lymphopeniA (60%) to severe combined immunoDeficiency (8%). Defects in humorAl immunity were documented in 4 pAtients And included severe hypogAmmAglobulinemiA with decreAsed T-cell numbers, trAnsient hypogAmmAglobulinemiA during infAncy, And Immunoglobulin A Deficiency. CONCLUSIONS. The presence of colobomA, choAnAl AtresiA, fAciAl nerve pAlsy, trAcheoesophAgeAl fistulA, or genitAl hypoplAsiA in boys should Alert the cliniciAn to the possibility of CHARGE syndrome rAther thAn the 22q11.2 deletion. MoleculAr testing for CHD7 mutAtions mAy help to confirm the diAgnosis. In this study, significAnt hypocAlcemiA And lymphopeniA occurred more frequently in pAtients with CHARGE syndrome thAn in those with 22q11.2 deletion syndrome. EArly inclusion of immunologists to the multidisciplinAry cAre teAm (As with 22q11.2 deletion) mAy be of greAt benefit to Affected pAtients.
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increAsed prevAlence of Immunoglobulin A Deficiency in pAtients with the chromosome 22q11 2 deletion syndrome digeorge syndrome velocArdiofAciAl syndrome
Clinical and Vaccine Immunology, 1998Co-Authors: Christopher A Smith, Deborah A Driscoll, Beverly S Emanuel, Donna M Mcdonaldmcginn, Elaine H Zackai, Kathleen E SullivanAbstract:We wished to determine the prevAlence of Immunoglobulin A (IgA) Deficiency in pAtients with the chromosome 22q11.2 deletion syndrome. A totAl of 32 pAtients with the chromosome 22q11.2 deletion were exAmined for IgA Deficiency. We report A 13% (n = 4) prevAlence of IgA Deficiency in pAtients with this syndrome. The odds rAtio of IgA Deficiency in this populAtion is 14.20 (P
Elaine H Zackai - One of the best experts on this subject based on the ideXlab platform.
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chArge colobomA heArt defect AtresiA choAnAe retArded growth And development genitAl hypoplAsiA eAr AnomAlies deAfness syndrome And chromosome 22q11 2 deletion syndrome A compArison of immunologic And nonimmunologic phenotypic feAtures
Pediatrics, 2009Co-Authors: Soma Jyonouchi, Donna M Mcdonaldmcginn, Elaine H Zackai, Sherri Bale, Kathleen E SullivanAbstract:OBJECTIVES. CHARGE (colobomA, heArt defect, AtresiA choAnAe, retArded growth And development, genitAl hypoplAsiA, eAr AnomAlies/deAfness) syndrome And chromosome 22q11.2 deletion syndrome Are known to hAve significAnt clinicAl overlAp including cArdiAc AnomAlies, eAr AbnormAlities, heAring loss, developmentAl delAy, renAl AbnormAlities, And cleft pAlAte. ImmunoDeficiency hAs been well documented in 22q11.2 deletion, but there hAs been limited recognition of this potentiAlly serious complicAtion in CHARGE syndrome. The goAls of our study were to identify clinicAl feAtures unique to CHARGE syndrome or 22q11.2 deletion And to describe the spectrum of immunoDeficiency found in pAtients with CHARGE syndrome. METHODS. This study included 25 children diAgnosed with CHARGE syndrome with positive CHD7 mutAtions through the Children9s HospitAl of PhilAdelphiA genetics progrAm. ClinicAl feAtures And lAborAtory findings were reviewed retrospectively. We compAred our findings to dAtA AvAilAble for A lArge cohort of pAtients with 22q11.2 deletion syndrome followed in our clinicAl genetics progrAm. RESULTS. FeAtures found more commonly in CHARGE syndrome included colobomA, choAnAl AtresiA, fAciAl nerve pAlsy, trAcheoesophAgeAl fistulA, And genitAl hypoplAsiA in boys. A high incidence of mArked hypocAlcemiA wAs observed in our study group (72%). We found A spectrum of cell-mediAted immunoDeficiency in our study group, which rAnged from lymphopeniA (60%) to severe combined immunoDeficiency (8%). Defects in humorAl immunity were documented in 4 pAtients And included severe hypogAmmAglobulinemiA with decreAsed T-cell numbers, trAnsient hypogAmmAglobulinemiA during infAncy, And Immunoglobulin A Deficiency. CONCLUSIONS. The presence of colobomA, choAnAl AtresiA, fAciAl nerve pAlsy, trAcheoesophAgeAl fistulA, or genitAl hypoplAsiA in boys should Alert the cliniciAn to the possibility of CHARGE syndrome rAther thAn the 22q11.2 deletion. MoleculAr testing for CHD7 mutAtions mAy help to confirm the diAgnosis. In this study, significAnt hypocAlcemiA And lymphopeniA occurred more frequently in pAtients with CHARGE syndrome thAn in those with 22q11.2 deletion syndrome. EArly inclusion of immunologists to the multidisciplinAry cAre teAm (As with 22q11.2 deletion) mAy be of greAt benefit to Affected pAtients.
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increAsed prevAlence of Immunoglobulin A Deficiency in pAtients with the chromosome 22q11 2 deletion syndrome digeorge syndrome velocArdiofAciAl syndrome
Clinical and Vaccine Immunology, 1998Co-Authors: Christopher A Smith, Deborah A Driscoll, Beverly S Emanuel, Donna M Mcdonaldmcginn, Elaine H Zackai, Kathleen E SullivanAbstract:We wished to determine the prevAlence of Immunoglobulin A (IgA) Deficiency in pAtients with the chromosome 22q11.2 deletion syndrome. A totAl of 32 pAtients with the chromosome 22q11.2 deletion were exAmined for IgA Deficiency. We report A 13% (n = 4) prevAlence of IgA Deficiency in pAtients with this syndrome. The odds rAtio of IgA Deficiency in this populAtion is 14.20 (P
Christopher A Smith - One of the best experts on this subject based on the ideXlab platform.
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increAsed prevAlence of Immunoglobulin A Deficiency in pAtients with the chromosome 22q11 2 deletion syndrome digeorge syndrome velocArdiofAciAl syndrome
Clinical and Vaccine Immunology, 1998Co-Authors: Christopher A Smith, Deborah A Driscoll, Beverly S Emanuel, Donna M Mcdonaldmcginn, Elaine H Zackai, Kathleen E SullivanAbstract:We wished to determine the prevAlence of Immunoglobulin A (IgA) Deficiency in pAtients with the chromosome 22q11.2 deletion syndrome. A totAl of 32 pAtients with the chromosome 22q11.2 deletion were exAmined for IgA Deficiency. We report A 13% (n = 4) prevAlence of IgA Deficiency in pAtients with this syndrome. The odds rAtio of IgA Deficiency in this populAtion is 14.20 (P
Sheryl L Henderson - One of the best experts on this subject based on the ideXlab platform.
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vAccine strAin herpes zoster ophthAlmicus in A 14 month old boy prompting An immunoDeficiency workup cAse report And review of vAccine strAin herpes zoster
Pediatric Infectious Disease Journal, 2020Co-Authors: Shannon Q Detty, Klint J Peebles, John M Guerrieri, Christine M Seroogy, Michael C Struck, Lisa M Arkin, Sheryl L HendersonAbstract:: We present A cAse of herpes zoster ophthAlmicus in An otherwise heAlthy 14-month-old mAle AssociAted with vAccine-strAin vAricellA-zoster virus 11 weeks After monovAlent vAricellA vAccine AdministrAtion. Herpes zoster ophthAlmicus, especiAlly in the setting of fAmiliAl Immunoglobulin A Deficiency, prompted further immunologic workup. A high index of suspicion is necessAry for timely diAgnosis And treAtment of vAccine-strAin herpes zoster.
