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Hoffman syndrome: New patients, new insights
Author(s) -
Hügle Boris,
Hoffman Hal,
Bird Lynne M.,
Gebauer Corinna,
Suchowerskyj Philipp,
Sack Ulrich,
Kohlhase Jürgen,
Schuster Volker
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33678
Subject(s) - hypogammaglobulinemia , common variable immunodeficiency , immunodeficiency , girl , medicine , pediatrics , immunodeficiency syndrome , facial dysmorphism , dermatology , immunology , antibody , immune system , genetics , biology , phenotype , gene
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. © 2010 Wiley‐Liss, Inc.