Chediak higashi syndrome
A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (NK) cell function. CHS may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. CHS occurs in mink, cattle, and mice, as well as man.
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It's NETHERTON SYNDROME (NS). Classical double edged scale Elevated Ig E , Atopic dermatitis suggest Netherton Syndrome SPINK 5 mutation is seen in Netherton's Syndrome. LAMA5 is associated with Junctional E.Bullosa and COL7A1 in dystrop...
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Defects in leukocyte function.
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