TY - JOUR
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
N1 - Publisher Copyright:
© 2016, Springer Science+Business Media New York.
PY - 2016/7/1
Y1 - 2016/7/1
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.
AB - 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.
KW - CD40/CD40L
KW - Hyper IgM Syndrome
KW - Primary immune deficiency
KW - USIDNET
UR - http://www.scopus.com/inward/record.url?scp=84969287466&partnerID=8YFLogxK
U2 - 10.1007/s10875-016-0291-4
DO - 10.1007/s10875-016-0291-4
M3 - Article
C2 - 27189378
AN - SCOPUS:84969287466
SN - 0271-9142
VL - 36
SP - 490
EP - 501
JO - Journal of Clinical Immunology
JF - Journal of Clinical Immunology
IS - 5
ER -