Cutaneous manifestations of primary immunodeficiency.

[omenn syndrome]

To show that skin symptoms help in the recognition of primary immunodeficiencies (PIDs ). To analyze whether recent molecular data help in understanding genotype /phenotype relations .Erythroderma in Omenn syndrome may be caused by either mutations in genes associated with severe combined immunodeficiency (SCID ) in which the generation of some T cells is possible , which results in potentially autoreactive lymphoid clones , or by selective proliferation of revertant CD 8 T cells in the skin due to clonal expansion in response to infections or autoantigens .The newborn eczematous eruption , which occurs mainly in the signal-transducer-and-activator-of-transcription-3 (STAT 3 ) variant , helps to differentiate STAT 3 from Dedicator of Cytokinesis 8 -related Hyper-IgE-syndrome (HIES ).Impaired T helper 17 cell (TH 17 ) immunity [HIES and defects of autoimmune regulator element (AIRE ), STAT-1 , and interleukin 17 receptor (IL 17 (R ))] may give rise to localized chronic mucocutaneous candidiasis , whereas a defective innate immune system predisposes to systemic candidiasis [congenital neutropenia , neutrophil dysfunction , and caspase recruitment domain 9 (CARD 9 ) deficiency ].Noninfectious granulomas may be the presenting symptom in innate immunity defects [such as chronic granulomatous disease (CGD ) or in predominantly humoral immunodeficiencies such as common variable immunodeficiency ], as well as ataxia teleangiectasia or rare recombination-activating gene -deficient cases .The skin is important in the diagnosis of PIDs . In particular eczematous lesions , erythroderma , noninfectious granuloma , and microbial manifestations may help to direct further diagnostic laboratory analysis .

Diseases
Validation

Diseases presenting "neutrophil dysfunction" symptom

omenn syndrome

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