title: Hoffman syndrome: New patients, new insights.
abstract: Hypogammaglobulinemia or agammaglobulinemia are major features of specific syndromes, including X-linked agammaglobulinemia and common variable immunodeficiency. However, the combination of hypogammaglobulinemia with specific dysmorphic features is less common, with only a few reported cases. One such report was a sporadic case of humoral immunodeficiency, facial dysmorphism, and limb anomalies in a young girl, later referred to as Hoffman syndrome. We report on a 7-year-old girl with almost complete loss of B cells, facial dysmorphism, and malformation of the limbs and genitalia, whose mother shows similar dysmorphic features with an attenuated version of the B-cell deficiency. We believe that all three cases described above represent the same condition. The features of the three affected individuals with Hoffman syndrome are reviewed. Further investigations in this recently recognized B-cell immunodeficiency syndrome are warranted.
authors.affiliation: The Hospital for Sick Children, University of Toronto, ON, Canada. boris.hugle@utoronto.ca
authors.forename: Boris
authors.initials: B
authors.lastname: Hügle
authors.forename: Hal
authors.initials: H
authors.lastname: Hoffman
authors.forename: Lynne M
authors.initials: LM
authors.lastname: Bird
authors.forename: Corinna
authors.initials: C
authors.lastname: Gebauer
authors.forename: Philipp
authors.initials: P
authors.lastname: Suchowerskyj
authors.forename: Ulrich
authors.initials: U
authors.lastname: Sack
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.forename: Volker
authors.initials: V
authors.lastname: Schuster
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000361:Agammaglobulinemia / Q000235:genetics* / Q000473:pathology; D001402:B-Lymphocytes; D002648:Child; D016207:Cytokines / Q000378:metabolism; D005260:Female; D006801:Humans; D008231:Lymphopenia / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: D016207:Cytokines