Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

Yael Gernez, Alexandra F. Freeman, Steven M. Holland, Elizabeth Garabedian, Niraj C. Patel, Jennifer M. Puck, Kathleen E. Sullivan, Javeed Akhter, Elizabeth Secord, Karin Chen, Rebecca Buckley, Elie Haddad, Hans D. Ochs, Ramsay L Fuleihan, John Routes, Mica Muskat, Patricia Lugar, Julien Mancini, Charlotte Cunningham-Rundles*

*Corresponding author for this work

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Background: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. Objective: Data from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases. Methods: A query was submitted to the USIDNET requesting deidentified data for patients with physician-diagnosed AD-HIES through July 2016. Results: Data on 85 patients diagnosed with AD-HIES (50 males; 35 females) born between 1950 and 2013, collected by 14 physicians from 25 states and Quebec, were entered into the USIDNET Registry by July 2016. Cumulative follow-up was 2157 years. Of these patients, 45.9% had a family history of HIES. The complications reported included skin abscesses (74.4%), eczema (57.7%), retained primary teeth (41.4%), fractures (39%), scoliosis (34.1%), and cancer (7%). Reported allergic diseases included food (37.8%), environmental (18%), and drugs (42.7%). The mean serum IgE level was 8383.7 kU/mL and was inversely correlated to the patient's age. A total of 49.4% had eosinophilia; 56% were known to be on trimethoprim-sulfamethoxazole, 26.6% on antifungal coverage, and 30.6% on immunoglobulin replacement therapy. Pneumonias were more commonly attributed to Staphylococcus aureus (55.3%) or Aspergillus fumigatus (22.4%); 19.5% had a history of lung abscess; these were most often associated with Pseudomonas aeruginosa (P Fisher's exact test =.029) or A. fumigatus (P Fisher's exact test =.016). Lung abscesses were significantly associated with drug reactions (P χ2 =.01; odds ratio: 4.03 [1.2-12.97]), depression (P Fisher's exact test =.036), and lower Karnofsky index scores (P Mann-Whitney =.007). Discussion: Data from the USIDNET Registry summarize the currently reported clinical characteristics of a large cohort of subjects with AD-HIES.

Original languageEnglish (US)
Pages (from-to)996-1001
Number of pages6
JournalJournal of Allergy and Clinical Immunology: In Practice
Volume6
Issue number3
DOIs
StatePublished - May 1 2018

Fingerprint

Job Syndrome
Registries
Lung Abscess
Aspergillus fumigatus
Tooth Fractures
Physicians
Karnofsky Performance Status
Passive Immunization
Deciduous Tooth
Quebec
Eczema
Sulfamethoxazole Drug Combination Trimethoprim
Eosinophilia
Scoliosis
Pharmaceutical Preparations
Abscess
Pseudomonas aeruginosa
Immunoglobulin E
Staphylococcus aureus
Pneumonia

Keywords

  • Buckley-Job syndrome
  • Chronic mucocutaneous candidiasis
  • Immunodeficiency
  • Pneumatocele
  • Quality of life

ASJC Scopus subject areas

  • Immunology and Allergy

Cite this

Gernez, Y., Freeman, A. F., Holland, S. M., Garabedian, E., Patel, N. C., Puck, J. M., ... Cunningham-Rundles, C. (2018). Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. Journal of Allergy and Clinical Immunology: In Practice, 6(3), 996-1001. https://doi.org/10.1016/j.jaip.2017.06.041
Gernez, Yael ; Freeman, Alexandra F. ; Holland, Steven M. ; Garabedian, Elizabeth ; Patel, Niraj C. ; Puck, Jennifer M. ; Sullivan, Kathleen E. ; Akhter, Javeed ; Secord, Elizabeth ; Chen, Karin ; Buckley, Rebecca ; Haddad, Elie ; Ochs, Hans D. ; Fuleihan, Ramsay L ; Routes, John ; Muskat, Mica ; Lugar, Patricia ; Mancini, Julien ; Cunningham-Rundles, Charlotte. / Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. In: Journal of Allergy and Clinical Immunology: In Practice. 2018 ; Vol. 6, No. 3. pp. 996-1001.
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abstract = "Background: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. Objective: Data from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases. Methods: A query was submitted to the USIDNET requesting deidentified data for patients with physician-diagnosed AD-HIES through July 2016. Results: Data on 85 patients diagnosed with AD-HIES (50 males; 35 females) born between 1950 and 2013, collected by 14 physicians from 25 states and Quebec, were entered into the USIDNET Registry by July 2016. Cumulative follow-up was 2157 years. Of these patients, 45.9{\%} had a family history of HIES. The complications reported included skin abscesses (74.4{\%}), eczema (57.7{\%}), retained primary teeth (41.4{\%}), fractures (39{\%}), scoliosis (34.1{\%}), and cancer (7{\%}). Reported allergic diseases included food (37.8{\%}), environmental (18{\%}), and drugs (42.7{\%}). The mean serum IgE level was 8383.7 kU/mL and was inversely correlated to the patient's age. A total of 49.4{\%} had eosinophilia; 56{\%} were known to be on trimethoprim-sulfamethoxazole, 26.6{\%} on antifungal coverage, and 30.6{\%} on immunoglobulin replacement therapy. Pneumonias were more commonly attributed to Staphylococcus aureus (55.3{\%}) or Aspergillus fumigatus (22.4{\%}); 19.5{\%} had a history of lung abscess; these were most often associated with Pseudomonas aeruginosa (P Fisher's exact test =.029) or A. fumigatus (P Fisher's exact test =.016). Lung abscesses were significantly associated with drug reactions (P χ2 =.01; odds ratio: 4.03 [1.2-12.97]), depression (P Fisher's exact test =.036), and lower Karnofsky index scores (P Mann-Whitney =.007). Discussion: Data from the USIDNET Registry summarize the currently reported clinical characteristics of a large cohort of subjects with AD-HIES.",
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author = "Yael Gernez and Freeman, {Alexandra F.} and Holland, {Steven M.} and Elizabeth Garabedian and Patel, {Niraj C.} and Puck, {Jennifer M.} and Sullivan, {Kathleen E.} and Javeed Akhter and Elizabeth Secord and Karin Chen and Rebecca Buckley and Elie Haddad and Ochs, {Hans D.} and Fuleihan, {Ramsay L} and John Routes and Mica Muskat and Patricia Lugar and Julien Mancini and Charlotte Cunningham-Rundles",
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Gernez, Y, Freeman, AF, Holland, SM, Garabedian, E, Patel, NC, Puck, JM, Sullivan, KE, Akhter, J, Secord, E, Chen, K, Buckley, R, Haddad, E, Ochs, HD, Fuleihan, RL, Routes, J, Muskat, M, Lugar, P, Mancini, J & Cunningham-Rundles, C 2018, 'Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry', Journal of Allergy and Clinical Immunology: In Practice, vol. 6, no. 3, pp. 996-1001. https://doi.org/10.1016/j.jaip.2017.06.041

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. / Gernez, Yael; Freeman, Alexandra F.; Holland, Steven M.; Garabedian, Elizabeth; Patel, Niraj C.; Puck, Jennifer M.; Sullivan, Kathleen E.; Akhter, Javeed; Secord, Elizabeth; Chen, Karin; Buckley, Rebecca; Haddad, Elie; Ochs, Hans D.; Fuleihan, Ramsay L; Routes, John; Muskat, Mica; Lugar, Patricia; Mancini, Julien; Cunningham-Rundles, Charlotte.

In: Journal of Allergy and Clinical Immunology: In Practice, Vol. 6, No. 3, 01.05.2018, p. 996-1001.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

AU - Gernez, Yael

AU - Freeman, Alexandra F.

AU - Holland, Steven M.

AU - Garabedian, Elizabeth

AU - Patel, Niraj C.

AU - Puck, Jennifer M.

AU - Sullivan, Kathleen E.

AU - Akhter, Javeed

AU - Secord, Elizabeth

AU - Chen, Karin

AU - Buckley, Rebecca

AU - Haddad, Elie

AU - Ochs, Hans D.

AU - Fuleihan, Ramsay L

AU - Routes, John

AU - Muskat, Mica

AU - Lugar, Patricia

AU - Mancini, Julien

AU - Cunningham-Rundles, Charlotte

PY - 2018/5/1

Y1 - 2018/5/1

N2 - Background: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. Objective: Data from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases. Methods: A query was submitted to the USIDNET requesting deidentified data for patients with physician-diagnosed AD-HIES through July 2016. Results: Data on 85 patients diagnosed with AD-HIES (50 males; 35 females) born between 1950 and 2013, collected by 14 physicians from 25 states and Quebec, were entered into the USIDNET Registry by July 2016. Cumulative follow-up was 2157 years. Of these patients, 45.9% had a family history of HIES. The complications reported included skin abscesses (74.4%), eczema (57.7%), retained primary teeth (41.4%), fractures (39%), scoliosis (34.1%), and cancer (7%). Reported allergic diseases included food (37.8%), environmental (18%), and drugs (42.7%). The mean serum IgE level was 8383.7 kU/mL and was inversely correlated to the patient's age. A total of 49.4% had eosinophilia; 56% were known to be on trimethoprim-sulfamethoxazole, 26.6% on antifungal coverage, and 30.6% on immunoglobulin replacement therapy. Pneumonias were more commonly attributed to Staphylococcus aureus (55.3%) or Aspergillus fumigatus (22.4%); 19.5% had a history of lung abscess; these were most often associated with Pseudomonas aeruginosa (P Fisher's exact test =.029) or A. fumigatus (P Fisher's exact test =.016). Lung abscesses were significantly associated with drug reactions (P χ2 =.01; odds ratio: 4.03 [1.2-12.97]), depression (P Fisher's exact test =.036), and lower Karnofsky index scores (P Mann-Whitney =.007). Discussion: Data from the USIDNET Registry summarize the currently reported clinical characteristics of a large cohort of subjects with AD-HIES.

AB - Background: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. Objective: Data from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases. Methods: A query was submitted to the USIDNET requesting deidentified data for patients with physician-diagnosed AD-HIES through July 2016. Results: Data on 85 patients diagnosed with AD-HIES (50 males; 35 females) born between 1950 and 2013, collected by 14 physicians from 25 states and Quebec, were entered into the USIDNET Registry by July 2016. Cumulative follow-up was 2157 years. Of these patients, 45.9% had a family history of HIES. The complications reported included skin abscesses (74.4%), eczema (57.7%), retained primary teeth (41.4%), fractures (39%), scoliosis (34.1%), and cancer (7%). Reported allergic diseases included food (37.8%), environmental (18%), and drugs (42.7%). The mean serum IgE level was 8383.7 kU/mL and was inversely correlated to the patient's age. A total of 49.4% had eosinophilia; 56% were known to be on trimethoprim-sulfamethoxazole, 26.6% on antifungal coverage, and 30.6% on immunoglobulin replacement therapy. Pneumonias were more commonly attributed to Staphylococcus aureus (55.3%) or Aspergillus fumigatus (22.4%); 19.5% had a history of lung abscess; these were most often associated with Pseudomonas aeruginosa (P Fisher's exact test =.029) or A. fumigatus (P Fisher's exact test =.016). Lung abscesses were significantly associated with drug reactions (P χ2 =.01; odds ratio: 4.03 [1.2-12.97]), depression (P Fisher's exact test =.036), and lower Karnofsky index scores (P Mann-Whitney =.007). Discussion: Data from the USIDNET Registry summarize the currently reported clinical characteristics of a large cohort of subjects with AD-HIES.

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KW - Chronic mucocutaneous candidiasis

KW - Immunodeficiency

KW - Pneumatocele

KW - Quality of life

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