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Erschienen in: Journal of Clinical Immunology 5/2016

17.05.2016 | Original Article

Hyper IgM Syndrome: a Report from the USIDNET Registry

verfasst von: 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

Erschienen in: Journal of Clinical Immunology | Ausgabe 5/2016

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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.
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Metadaten
Titel
Hyper IgM Syndrome: a Report from the USIDNET Registry
verfasst von
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
Publikationsdatum
17.05.2016
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 5/2016
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-016-0291-4

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