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Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

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Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis. / Frede, Natalie; Rojas-Restrepo, Jessica; Caballero Garcia de Oteyza, Andrés; Buchta, Mary; Hübscher, Katrin; Gámez-Díaz, Laura; Proietti, Michele; Saghafi, Shiva; Chavoshzadeh, Zahra; Soler-Palacin, Pere; Galal, Nermeen; Adeli, Mehdi; Aldave-Becerra, Juan Carlos; Al-Ddafari, Moudjahed Saleh; Ardenyz, Ömür; Atkinson, T Prescott; Kut, Fulya Bektas; Çelmeli, Fatih; Rees, Helen; Kilic, Sara S; Kirovski, Ilija; Klein, Christoph; Kobbe, Robin; Korganow, Anne-Sophie; Lilic, Desa; Lunt, Peter; Makwana, Niten; Metin, Ayse; Özgür, Tuba Turul; Karakas, Ayse Akman; Seneviratne, Suranjith; Sherkat, Roya; Sousa, Ana Berta; Unal, Ekrem; Patiroglu, Turkan; Wahn, Volker; von Bernuth, Horst; Whiteford, Margo; Doffinger, Rainer; Jouhadi, Zineb; Grimbacher, Bodo.

in: J CLIN IMMUNOL, Jahrgang 41, Nr. 8, 11.2021, S. 1804-1838.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung

Harvard

Frede, N, Rojas-Restrepo, J, Caballero Garcia de Oteyza, A, Buchta, M, Hübscher, K, Gámez-Díaz, L, Proietti, M, Saghafi, S, Chavoshzadeh, Z, Soler-Palacin, P, Galal, N, Adeli, M, Aldave-Becerra, JC, Al-Ddafari, MS, Ardenyz, Ö, Atkinson, TP, Kut, FB, Çelmeli, F, Rees, H, Kilic, SS, Kirovski, I, Klein, C, Kobbe, R, Korganow, A-S, Lilic, D, Lunt, P, Makwana, N, Metin, A, Özgür, TT, Karakas, AA, Seneviratne, S, Sherkat, R, Sousa, AB, Unal, E, Patiroglu, T, Wahn, V, von Bernuth, H, Whiteford, M, Doffinger, R, Jouhadi, Z & Grimbacher, B 2021, 'Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis', J CLIN IMMUNOL, Jg. 41, Nr. 8, S. 1804-1838. https://doi.org/10.1007/s10875-021-01086-4

APA

Frede, N., Rojas-Restrepo, J., Caballero Garcia de Oteyza, A., Buchta, M., Hübscher, K., Gámez-Díaz, L., Proietti, M., Saghafi, S., Chavoshzadeh, Z., Soler-Palacin, P., Galal, N., Adeli, M., Aldave-Becerra, J. C., Al-Ddafari, M. S., Ardenyz, Ö., Atkinson, T. P., Kut, F. B., Çelmeli, F., Rees, H., ... Grimbacher, B. (2021). Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis. J CLIN IMMUNOL, 41(8), 1804-1838. https://doi.org/10.1007/s10875-021-01086-4

Vancouver

Frede N, Rojas-Restrepo J, Caballero Garcia de Oteyza A, Buchta M, Hübscher K, Gámez-Díaz L et al. Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis. J CLIN IMMUNOL. 2021 Nov;41(8):1804-1838. https://doi.org/10.1007/s10875-021-01086-4

Bibtex

@article{f316ae15cfb64da59143c0f68434b2e1,
title = "Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis",
abstract = "Hyper-IgE syndromes and chronic mucocutaneous candidiasis constitute rare primary immunodeficiency syndromes with an overlapping clinical phenotype. In recent years, a growing number of underlying genetic defects have been identified. To characterize the underlying genetic defects in a large international cohort of 275 patients, of whom 211 had been clinically diagnosed with hyper-IgE syndrome and 64 with chronic mucocutaneous candidiasis, targeted panel sequencing was performed, relying on Agilent HaloPlex and Illumina MiSeq technologies. The targeted panel sequencing approach allowed us to identify 87 (32 novel and 55 previously described) mutations in 78 patients, which generated a diagnostic success rate of 28.4%. Specifically, mutations in DOCK8 (26 patients), STAT3 (21), STAT1 (15), CARD9 (6), AIRE (3), IL17RA (2), SPINK5 (3), ZNF341 (2), CARMIL2/RLTPR (1), IL12RB1 (1), and WAS (1) have been detected. The most common clinical findings in this cohort were elevated IgE (81.5%), eczema (71.7%), and eosinophilia (62.9%). Regarding infections, 54.7% of patients had a history of radiologically proven pneumonia, and 28.3% have had other serious infections. History of fungal infection was noted in 53% of cases and skin abscesses in 52.9%. Skeletal or dental abnormalities were observed in 46.2% of patients with a characteristic face being the most commonly reported feature (23.1%), followed by retained primary teeth in 18.9% of patients. Targeted panel sequencing provides a cost-effective first-line genetic screening method which allows for the identification of mutations also in patients with atypical clinical presentations and should be routinely implemented in referral centers.",
author = "Natalie Frede and Jessica Rojas-Restrepo and {Caballero Garcia de Oteyza}, Andr{\'e}s and Mary Buchta and Katrin H{\"u}bscher and Laura G{\'a}mez-D{\'i}az and Michele Proietti and Shiva Saghafi and Zahra Chavoshzadeh and Pere Soler-Palacin and Nermeen Galal and Mehdi Adeli and Aldave-Becerra, {Juan Carlos} and Al-Ddafari, {Moudjahed Saleh} and {\"O}m{\"u}r Ardenyz and Atkinson, {T Prescott} and Kut, {Fulya Bektas} and Fatih {\c C}elmeli and Helen Rees and Kilic, {Sara S} and Ilija Kirovski and Christoph Klein and Robin Kobbe and Anne-Sophie Korganow and Desa Lilic and Peter Lunt and Niten Makwana and Ayse Metin and {\"O}zg{\"u}r, {Tuba Turul} and Karakas, {Ayse Akman} and Suranjith Seneviratne and Roya Sherkat and Sousa, {Ana Berta} and Ekrem Unal and Turkan Patiroglu and Volker Wahn and {von Bernuth}, Horst and Margo Whiteford and Rainer Doffinger and Zineb Jouhadi and Bodo Grimbacher",
note = "{\textcopyright} 2021. The Author(s).",
year = "2021",
month = nov,
doi = "10.1007/s10875-021-01086-4",
language = "English",
volume = "41",
pages = "1804--1838",
journal = "J CLIN IMMUNOL",
issn = "0271-9142",
publisher = "Springer New York",
number = "8",

}

RIS

TY - JOUR

T1 - Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

AU - Frede, Natalie

AU - Rojas-Restrepo, Jessica

AU - Caballero Garcia de Oteyza, Andrés

AU - Buchta, Mary

AU - Hübscher, Katrin

AU - Gámez-Díaz, Laura

AU - Proietti, Michele

AU - Saghafi, Shiva

AU - Chavoshzadeh, Zahra

AU - Soler-Palacin, Pere

AU - Galal, Nermeen

AU - Adeli, Mehdi

AU - Aldave-Becerra, Juan Carlos

AU - Al-Ddafari, Moudjahed Saleh

AU - Ardenyz, Ömür

AU - Atkinson, T Prescott

AU - Kut, Fulya Bektas

AU - Çelmeli, Fatih

AU - Rees, Helen

AU - Kilic, Sara S

AU - Kirovski, Ilija

AU - Klein, Christoph

AU - Kobbe, Robin

AU - Korganow, Anne-Sophie

AU - Lilic, Desa

AU - Lunt, Peter

AU - Makwana, Niten

AU - Metin, Ayse

AU - Özgür, Tuba Turul

AU - Karakas, Ayse Akman

AU - Seneviratne, Suranjith

AU - Sherkat, Roya

AU - Sousa, Ana Berta

AU - Unal, Ekrem

AU - Patiroglu, Turkan

AU - Wahn, Volker

AU - von Bernuth, Horst

AU - Whiteford, Margo

AU - Doffinger, Rainer

AU - Jouhadi, Zineb

AU - Grimbacher, Bodo

N1 - © 2021. The Author(s).

PY - 2021/11

Y1 - 2021/11

N2 - Hyper-IgE syndromes and chronic mucocutaneous candidiasis constitute rare primary immunodeficiency syndromes with an overlapping clinical phenotype. In recent years, a growing number of underlying genetic defects have been identified. To characterize the underlying genetic defects in a large international cohort of 275 patients, of whom 211 had been clinically diagnosed with hyper-IgE syndrome and 64 with chronic mucocutaneous candidiasis, targeted panel sequencing was performed, relying on Agilent HaloPlex and Illumina MiSeq technologies. The targeted panel sequencing approach allowed us to identify 87 (32 novel and 55 previously described) mutations in 78 patients, which generated a diagnostic success rate of 28.4%. Specifically, mutations in DOCK8 (26 patients), STAT3 (21), STAT1 (15), CARD9 (6), AIRE (3), IL17RA (2), SPINK5 (3), ZNF341 (2), CARMIL2/RLTPR (1), IL12RB1 (1), and WAS (1) have been detected. The most common clinical findings in this cohort were elevated IgE (81.5%), eczema (71.7%), and eosinophilia (62.9%). Regarding infections, 54.7% of patients had a history of radiologically proven pneumonia, and 28.3% have had other serious infections. History of fungal infection was noted in 53% of cases and skin abscesses in 52.9%. Skeletal or dental abnormalities were observed in 46.2% of patients with a characteristic face being the most commonly reported feature (23.1%), followed by retained primary teeth in 18.9% of patients. Targeted panel sequencing provides a cost-effective first-line genetic screening method which allows for the identification of mutations also in patients with atypical clinical presentations and should be routinely implemented in referral centers.

AB - Hyper-IgE syndromes and chronic mucocutaneous candidiasis constitute rare primary immunodeficiency syndromes with an overlapping clinical phenotype. In recent years, a growing number of underlying genetic defects have been identified. To characterize the underlying genetic defects in a large international cohort of 275 patients, of whom 211 had been clinically diagnosed with hyper-IgE syndrome and 64 with chronic mucocutaneous candidiasis, targeted panel sequencing was performed, relying on Agilent HaloPlex and Illumina MiSeq technologies. The targeted panel sequencing approach allowed us to identify 87 (32 novel and 55 previously described) mutations in 78 patients, which generated a diagnostic success rate of 28.4%. Specifically, mutations in DOCK8 (26 patients), STAT3 (21), STAT1 (15), CARD9 (6), AIRE (3), IL17RA (2), SPINK5 (3), ZNF341 (2), CARMIL2/RLTPR (1), IL12RB1 (1), and WAS (1) have been detected. The most common clinical findings in this cohort were elevated IgE (81.5%), eczema (71.7%), and eosinophilia (62.9%). Regarding infections, 54.7% of patients had a history of radiologically proven pneumonia, and 28.3% have had other serious infections. History of fungal infection was noted in 53% of cases and skin abscesses in 52.9%. Skeletal or dental abnormalities were observed in 46.2% of patients with a characteristic face being the most commonly reported feature (23.1%), followed by retained primary teeth in 18.9% of patients. Targeted panel sequencing provides a cost-effective first-line genetic screening method which allows for the identification of mutations also in patients with atypical clinical presentations and should be routinely implemented in referral centers.

U2 - 10.1007/s10875-021-01086-4

DO - 10.1007/s10875-021-01086-4

M3 - SCORING: Journal article

C2 - 34390440

VL - 41

SP - 1804

EP - 1838

JO - J CLIN IMMUNOL

JF - J CLIN IMMUNOL

SN - 0271-9142

IS - 8

ER -