Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization

Article Abstract:

Abnormalities in the the cytoskeletons of affected cells in the Wiskott-Aldrich syndrome led to the observation that this disease may be caused by a disfunction in the formation of actin cytoskeletons. The syndrome may be caused by the absence of the Wiskott-Aldrich Syndrome protein (WASP) which normally serves in organizing polymerized actin. WASP has a structure with parts similar to other actin organizer proteins, and is inhibited specifically by the guanosine triphosphatase CDC42Hs.

Actin, Guanosine triphosphatase

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Partial V(D)J recombination activity leads to Omenn syndrome

Article Abstract:

Omenn syndrome refers to a rare autosomal recessive genetic disorder with severe combined immunodeficiency symptom associated with erythrodermia, eosinophilia, hepatosplenomegaly and lymphadenopathy. Such a disorder can be attributed to recessive mutations in the Rag-1 or Rag-2 genes. These mutations have resulted to reduced V(D)J activity and immunodeficiency of patients suffering from Omenn syndrome. Thus, V(D)J recombination deficiencies can be a molecular basis of such a disease.

Analysis, Antigen receptors, T cell, T cell antigen receptors, Genetic disorders

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The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

Article Abstract:

The role of gp39-CD40 interaction in a group of hyper-IgM (HIM) syndrome patients with defective antibody production was investigated. It was found that these patients have defective gp39-CD40 interactions. This conclusion was based on measurements of gp39 mRNA expression levels and experiments on sequenced cDNAs encoding gp39 derived from HIM patients. Thus, the findings suggest that a defect in gp39 is the basis of X-linked HIM.

Glycoproteins, Immunological deficiency syndromes, Immunologic deficiency syndromes, B cells, Agammaglobulinemia

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