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MHC class 2 deficiency and X‐linked agammaglobulinaemia in a consanguineous extended family
Author(s) -
Broides A.,
Shubinsky G.,
Parvari R.,
Grimbacher B.,
Somech R.,
Garty B. Z.,
Levy J.
Publication year - 2009
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2009.00847.x
Subject(s) - immunodeficiency , genetics , major histocompatibility complex , disease , immunodeficiency syndrome , histocompatibility , biology , medicine , human leukocyte antigen , gene , antigen , immune system , pathology
Summary Manifestations of immunodeficiency within the same family are presumed to be the same disease. We report a consanguineous extended family where four patients have immunodeficiency, three have X‐linked agammaglobulinaemia and one has major histocompatibility complex class 2 deficiency. Within one family, two rare genetic diseases with similar clinical manifestations can occur.