Atopic Dermatitis, Eczema, and Noninfectious Immunodeficiency Disorders
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Cartilage-hair hypoplasia syndrome, AR, patient with short-limbed dwarfism, fine sparse, hypopigmented hair, defective cell mediated immunity.
Omenn’s syndrome, AR, mimic GVHD, exfoliative erythroderma, eosinophilia, recurrent infection, hypogammaglobulinema, diarrhea, hepatosplenomegly, early death by 6 month. Inefficient and abnormal generation of T-Cell receptor.
SCID: Severe Combined Immunodeficiency Disease
Severe impairment of humoral and cellular immunity
Triad of Moniliasis of the oropharynx and skin, intractable diarrhea, and pneumonia.
Overwhelming viral infection is the cause of death.
Deficiency or total absence of circulating lymphocytes
Thymoma with Immunodeficiency
Deficient in cell mediated immunity and benign thymoma occurring simultaneously
Thymectomy does not affect the immunodeficiency
Ataxia-Telangiectasia (Louis-Bar’s S.)
Distinctive telangiectasia in bulbar conjuctiva and flexural suraces of the arm developing during the 5th year of age
Telangiectasia occurs on butterfly are of the face, palate, ear, and exposed skin. Café au lait patches, and Graying hair also present.
Cerebellar ataxia is the first sign of this syndrome, beginning in the second year of life.
Choreic and athetoid movement present.
Persistent granulomatous plaques on the leg of child with ataxia–telangiectasia.
Triad: chronic eczematous dermatitis resemble AD, increase suseptibility to infections (OM), and thrombocytopenia purpura/hepatoslpenomegly
Death by age 6
Accelerated IgA, IgM and IgE synthesis
T-cell decline in numbers and activity
Xp11 gene mutation. Codes for WASP protein which reorganize cytoskeleton
X-Linked Lymphoproliferative Syndrome
Aka Duncan’s disease
Inability to control Epstein-Barr virus infection.
Pt normal until develop infectious Mono.
B-cell lymphoproliferative disease with acquired hypoglobulinemia.
Chronic Granulomatous Disease
Recurring purulent and granulomatous infections involving long bones, lymphatic tissue, liver, skin, and lung.
Deficient in one of the component of NADPH-oxidase complex, which generates superoxide.
Leads to inability to destroy bacteria per radical mechanism
Chronic Granulomatous Disease
65% of cases are the X-linked form, lacks the subunit of cytochrom b 558(gp91-phox)
Female carrier has mixed and normal and abnormal cells thus shows an intermediate phenotype.
Leukocyte Adhesion Molecule Deficiency
Recurrent bacteria and fungal infections and pus formations as a result of a block of leukocyte migration
Faulty complexing of the CD11 and CD18 integrins
Death occurs in first 4 years of life unless bone marrow transplant is undertaken.
Progressively degenerative, fatal, familial disease of young children
Partial oculocutaneous albinism, cutaneous and intestinal infections early in childhood
Ocular albinism is accompanied by nystagmus and photophobia.
Defect in the gene LYST, resulting in defective vascular transport to and from the lysosome
Hyperimmunoglobulinemia E Syndrome
Consists of atopic-like eczematous dermatitis, recurrent pyogenic infection, high lever of IgE, elevated IgD, IgE antistaph antibodies, and eosinophilia.
Face is consistently involved. Begin early in life (2 month to 2 years)
Lesions resemble prurigo
Keratoderma of the palms and soles
Subset of HIE.
Mainly affect girls with red hair, freckles, blue eyes, and hyperextensible joints. Cold abscesses occur.
Immunocompetent cells are intor duced as graft or blood transfusion to host who is unable to reject the graft cell.
Most commonly after bone marrow transplant.
Begins between 4-5th weeks after transplant.
Result in exfoliative erythroderma.
Early, chronic graft-versus-host reaction with widespread, almost confluent hyperpigmented lichenoid papules and toxic epidermal necrosis-like appearance on knee
Late, chronic graft-versus -host reaction with hyperpigmented sclerotic plaques on the back
Acute graft-versus-host reaction with vivid palmar erythema
Graft-versus-host reaction with early, chronic, diffuse, widespread lichenoid changes of lips
Acute erosions of the buccal mucosa in graft-versus-host reaction