The following conditions and diseases that are associated with primary immunodeficiency disorder include, Combined variable immunodeficiency disease, Ataxia-telangiectasia, Chediak-Higashi syndrome, Complement deficiencies, DiGeorge syndrome, Hypogammaglobulinemia, Job syndrome, Leukocyte adhesion defects, Bruton disease, Congenital agammaglobulinemia, Selective deficiency of IgA, Wiscott-Aldri...

Among mice of strain SB/Le, homozygous for the mutant genes beige (bg), satin (sa), and white-bellied agouti (A(w)), 70% developed progressive pneumonitis by 6 months of age. Among backcross offspring from an outcross to C57BL/6J-A(w-J), 49% of homozygous beige and 11% of nonbeige genotypes developed pneumonitis by 6 months of age. The evidence indicates that a specific action of the beige gene...

Chediak-Higashi syndrome is a rare condition characterized by susceptibility to bacterial infections, defective natural killer activity, and episodes of macrophage activation known as accelerated phases. Chemotherapy can induce transient remission of the accelerated phase, but relapses become less and less sensitive to treatment and ultimately lead to death. Allogenic bone marrow transplantatio...

Multivesicular endosomes are present in virtually every eucaryotic cell, where they arise by intra-endosomal budding of the limiting endosomal membrane. Some genetic diseases such as Chediak-Higashi syndrome are characterized by enlarged membrane-filled endosomes. The same altered endosomal morphology can be observed in cells exposed to certain drugs, for example U18666A. The mechanisms involve...

Chediak-Higashi syndrome is a rare condition characterized by susceptibility to bacterial infections, defective natural killer activity, and episodes of macrophage activation known as accelerated phases. Chemotherapy can induce transient remission of the accelerated phase, but relapses become less and less sensitive to treatment and ultimately lead to death. Allogenic bone marrow transplantatio...

Cultured fibroblasts from a patient with the Chediak-Higashi syndrome, the mother of the patient, and a normal control were studied by light and electron microscopy. The distribution pattern of PAS-positive and acid phosphatase-containing granules in the cytoplasm differed significantly in the fibroblasts from the patient when compared with those from the mother and control. The granules in the...

Chediak-Higashi syndrome (CHS), an autosomal recessive defect of polymorphonuclear leucocytic function is characterized by increased susceptibility to pyogenic infections, oculocutaneous albinism, neutropenia and presence of abnormal granules in leucocytes. This rare disorder has been described in approximately 80 cases from world over including three reports from India since its first descript...

The Chediak Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by partial oculo-cutaneous albinism, frequent pyogenic infections, presence of giant granules in leucocytes and other granule containing cells(l). To date less than 150 cases have been reported in the world literature. This includes a pregnant lady who delivered a normal child(2). The first case in India was ...