Cias1

Granulomatous sinovitis with uveitis and cranial neuropathies (Blau syndrome) CARD15 Presumed defect in C4 binding dissociates and degrades C4 (classical C- pathway) C4 binding protein a AR 1q32 42 C4 binding protein P AR 1q32 42 Glycosyl phosphatidylinositol (GPI)-anchored AR 1q32 42 antigen. Impairs C' killing by controlling both pathways 20 kDa GPI-anchored antigen. Inhibits lysis by AR 11p13 42 Mannose-binding lectin activates a distinct, AR and AD 10q11.2 42 antibody-independent complement...

Genetically Determined Immunodeficiency Diseases A Perspective

OCHS, and JENNIFER M. PUCK We are in an era of explosive growth in our understanding of the molecular and genetic basis of immune defects. In the early 1990s, only a handful of genes were known to be associated with these diseases, but now many are recognized and the process of discovering additional immunodeficiency genes is proceeding rapidly. Advances in basic research in immunology, combined with the availability of the DNA sequence of nearly the entire human and...

Btk

X-linked agammaglobulinemia, XLA XLP (LYP, DSHP) X-linked lymphoproliferative syndrome, XLP CD40L X-linked hyper IgM syndrome NEMO (IKBKG) X-linked ectodermal dysplasia with immunodeficiency Figure 2.5. Idiogram of human chromosome X, illustrating the major Giemsa bands and conventional cytogenetic nomenclature, including p (short) arm and q (long) arm, integers denoting major bands increasing from centromere to telomere, and additional digits to the right of the decimal point denoting...

Genetic Principles and Technologies in the Study of Immune Disorders

NUSSBAUM Medical genetics is the subspecialty of medicine concerned with the investigation, diagnosis, treatment, counseling, and management of patients and families with inherited disease. Research in medical genetics focuses on identifying the genes involved in human hereditary diseases and the changes in DNA sequence that cause or predispose to these diseases elucidating disease patho-genesis, including both genetic and environmental factors understanding the...