Hyper IgM Syndrome

a Report from the USIDNET Registry

Emily A. Leven, Patrick Maffucci, Hans D. Ochs, Paul R. Scholl, Rebecca H. Buckley, Ramsay L. Fuleihan, Raif S. Geha, Coleen K. Cunningham, Francisco A. Bonilla, Mary Ellen Conley, Ronald M. Ferdman, Vivian Hernandez-Trujillo, Jennifer M. Puck, Kathleen Sullivan, Elizabeth A. Secord, Manish Ramesh, Charlotte Cunningham-Rundles*

*Corresponding author for this work

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Purpose: The United States Immunodeficiency Network (USIDNET) patient registry was used to characterize the presentation, genetics, phenotypes, and treatment of patients with Hyper IgM Syndrome (HIGM). Methods: The USIDNET Registry was queried for HIGM patient data collected from October 1992 to July 2015. Data fields included demographics, criteria for diagnosis, pedigree analysis, mutations, clinical features, treatment and transplant records, laboratory findings, and mortality. Results: Fifty-two physicians entered data from 145 patients of ages 2 months to 62 years (median 12 years); 131 were males. Using patients’ age at last entry, data from 2072 patient years are included. Mutations were recorded for 85 subjects; 82 were in CD40LG. Eighteen subjects had non-X-linked HIGM. 40 % had a normal serum IgM and 15 %, normal IgA. Infections were reported for 91 %, with pulmonary, ear, and sinus infections being the most common. 42 % had Pneumocystis jirovecii pneumonia; 6 % had Cryptosporidium. 41 % had neutropenia. 78 % experienced non-infectious complications: chronic diarrhea (n = 22), aphthous ulcers (n = 28), and neoplasms (n = 8) including colon cancer, adrenal adenoma, liver adenocarcinoma, pancreatic carcinoid, acute myeloid leukemia, hepatoma, and, in a female with an autosomal dominant gain of function mutation in PIK3CD, an ovarian dysgerminoma. Thirteen patients had a hematopoietic marrow or stem cell transplant; three had solid organ transplants. Thirteen were known to have died (median age = 14 years). Conclusions: Analysis of the USIDNET Registry provides data on the common clinical features of this rare syndrome, and in contrast with previously published data, demonstrates longer survival times and reduced gastrointestinal manifestations.

Original languageEnglish (US)
Pages (from-to)490-501
Number of pages12
JournalJournal of Clinical Immunology
Volume36
Issue number5
DOIs
StatePublished - Jul 1 2016

Fingerprint

Hyper-IgM Immunodeficiency Syndrome
Registries
Transplants
Mutation
Dysgerminoma
Aphthous Stomatitis
Pneumocystis carinii
Cryptosporidium
Pneumocystis Pneumonia
Carcinoid Tumor
Pedigree
Infection
Neutropenia
Acute Myeloid Leukemia
Adenoma
Colonic Neoplasms
Immunoglobulin A
Ear
Immunoglobulin M
Hepatocellular Carcinoma

Keywords

  • CD40/CD40L
  • Hyper IgM Syndrome
  • Primary immune deficiency
  • USIDNET

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Leven, E. A., Maffucci, P., Ochs, H. D., Scholl, P. R., Buckley, R. H., Fuleihan, R. L., ... Cunningham-Rundles, C. (2016). Hyper IgM Syndrome: a Report from the USIDNET Registry. Journal of Clinical Immunology, 36(5), 490-501. https://doi.org/10.1007/s10875-016-0291-4
Leven, Emily A. ; Maffucci, Patrick ; Ochs, Hans D. ; Scholl, Paul R. ; Buckley, Rebecca H. ; Fuleihan, Ramsay L. ; Geha, Raif S. ; Cunningham, Coleen K. ; Bonilla, Francisco A. ; Conley, Mary Ellen ; Ferdman, Ronald M. ; Hernandez-Trujillo, Vivian ; Puck, Jennifer M. ; Sullivan, Kathleen ; Secord, Elizabeth A. ; Ramesh, Manish ; Cunningham-Rundles, Charlotte. / Hyper IgM Syndrome : a Report from the USIDNET Registry. In: Journal of Clinical Immunology. 2016 ; Vol. 36, No. 5. pp. 490-501.
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Leven, EA, Maffucci, P, Ochs, HD, Scholl, PR, Buckley, RH, Fuleihan, RL, Geha, RS, Cunningham, CK, Bonilla, FA, Conley, ME, Ferdman, RM, Hernandez-Trujillo, V, Puck, JM, Sullivan, K, Secord, EA, Ramesh, M & Cunningham-Rundles, C 2016, 'Hyper IgM Syndrome: a Report from the USIDNET Registry', Journal of Clinical Immunology, vol. 36, no. 5, pp. 490-501. https://doi.org/10.1007/s10875-016-0291-4

Hyper IgM Syndrome : a Report from the USIDNET Registry. / Leven, Emily A.; Maffucci, Patrick; Ochs, Hans D.; Scholl, Paul R.; Buckley, Rebecca H.; Fuleihan, Ramsay L.; Geha, Raif S.; Cunningham, Coleen K.; Bonilla, Francisco A.; Conley, Mary Ellen; Ferdman, Ronald M.; Hernandez-Trujillo, Vivian; Puck, Jennifer M.; Sullivan, Kathleen; Secord, Elizabeth A.; Ramesh, Manish; Cunningham-Rundles, Charlotte.

In: Journal of Clinical Immunology, Vol. 36, No. 5, 01.07.2016, p. 490-501.

Research output: Contribution to journalArticle

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T1 - Hyper IgM Syndrome

T2 - a Report from the USIDNET Registry

AU - Leven, Emily A.

AU - Maffucci, Patrick

AU - Ochs, Hans D.

AU - Scholl, Paul R.

AU - Buckley, Rebecca H.

AU - Fuleihan, Ramsay L.

AU - Geha, Raif S.

AU - Cunningham, Coleen K.

AU - Bonilla, Francisco A.

AU - Conley, Mary Ellen

AU - Ferdman, Ronald M.

AU - Hernandez-Trujillo, Vivian

AU - Puck, Jennifer M.

AU - Sullivan, Kathleen

AU - Secord, Elizabeth A.

AU - Ramesh, Manish

AU - Cunningham-Rundles, Charlotte

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N2 - Purpose: The United States Immunodeficiency Network (USIDNET) patient registry was used to characterize the presentation, genetics, phenotypes, and treatment of patients with Hyper IgM Syndrome (HIGM). Methods: The USIDNET Registry was queried for HIGM patient data collected from October 1992 to July 2015. Data fields included demographics, criteria for diagnosis, pedigree analysis, mutations, clinical features, treatment and transplant records, laboratory findings, and mortality. Results: Fifty-two physicians entered data from 145 patients of ages 2 months to 62 years (median 12 years); 131 were males. Using patients’ age at last entry, data from 2072 patient years are included. Mutations were recorded for 85 subjects; 82 were in CD40LG. Eighteen subjects had non-X-linked HIGM. 40 % had a normal serum IgM and 15 %, normal IgA. Infections were reported for 91 %, with pulmonary, ear, and sinus infections being the most common. 42 % had Pneumocystis jirovecii pneumonia; 6 % had Cryptosporidium. 41 % had neutropenia. 78 % experienced non-infectious complications: chronic diarrhea (n = 22), aphthous ulcers (n = 28), and neoplasms (n = 8) including colon cancer, adrenal adenoma, liver adenocarcinoma, pancreatic carcinoid, acute myeloid leukemia, hepatoma, and, in a female with an autosomal dominant gain of function mutation in PIK3CD, an ovarian dysgerminoma. Thirteen patients had a hematopoietic marrow or stem cell transplant; three had solid organ transplants. Thirteen were known to have died (median age = 14 years). Conclusions: Analysis of the USIDNET Registry provides data on the common clinical features of this rare syndrome, and in contrast with previously published data, demonstrates longer survival times and reduced gastrointestinal manifestations.

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KW - Primary immune deficiency

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