title: Hyper IgM Syndrome: a Report from the USIDNET Registry.
abstract: 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).
  
  
  
  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.
  
  
  
  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).
  
  
  
  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.
authors.affiliation: Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Emily A
authors.initials: EA
authors.lastname: Leven
authors.affiliation: Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Patrick
authors.initials: P
authors.lastname: Maffucci
authors.affiliation: Seattle Children's Hospital Seattle, Seattle, WA, USA.
authors.forename: Hans D
authors.initials: HD
authors.lastname: Ochs
authors.affiliation: Boehringer Ingelheim Pharmaceuticals, Inc., Ridgefield, CT, USA.
authors.forename: Paul R
authors.initials: PR
authors.lastname: Scholl
authors.affiliation: Duke University School of Medicine, Durham, NC, USA.
authors.forename: Rebecca H
authors.initials: RH
authors.lastname: Buckley
authors.affiliation: Children's Memorial Hospital, Chicago, IL, USA.
authors.forename: Ramsay L
authors.initials: RL
authors.lastname: Fuleihan
authors.affiliation: Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
authors.forename: Raif S
authors.initials: RS
authors.lastname: Geha
authors.affiliation: Duke University School of Medicine, Durham, NC, USA.
authors.forename: Coleen K
authors.initials: CK
authors.lastname: Cunningham
authors.affiliation: Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
authors.forename: Francisco A
authors.initials: FA
authors.lastname: Bonilla
authors.affiliation: Rockefeller University, New York, NY, USA.
authors.forename: Mary Ellen
authors.initials: ME
authors.lastname: Conley
authors.affiliation: Children's Hospital Los Angeles, Los Angeles, CA, USA.
authors.forename: Ronald M
authors.initials: RM
authors.lastname: Ferdman
authors.affiliation: Miami Children's Hospital, Miami, FL, USA.
authors.forename: Vivian
authors.initials: V
authors.lastname: Hernandez-Trujillo
authors.affiliation: University of California San Francisco School of Medicine, San Francisco, CA, USA.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Puck
authors.affiliation: The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Sullivan
authors.affiliation: Children's Hospital of Michigan, Detroit, MI, USA.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Secord
authors.affiliation: Montefiore Medical Center, Bronx, NY, USA.
authors.forename: Manish
authors.initials: M
authors.lastname: Ramesh
authors.affiliation: Icahn School of Medicine at Mount Sinai, New York, NY, USA. charlotte.cunningham-rundles@mssm.edu.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Cunningham-Rundles
mesh_terms: D000293:Adolescent; D000328:Adult; D023201:CD40 Ligand / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003967:Diarrhea; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009503:Neutropenia; D012042:Registries; D016019:Survival Analysis; D014481:United States; D055815:Young Adult
chemical_list: D023201:CD40 Ligand
keywords: CD40/CD40L; Hyper IgM Syndrome; Primary immune deficiency; USIDNET