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Cutaneous manifestations of primary immunodeficiency.

AbstractPURPOSE OF REVIEW:
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.
RECENT FINDINGS:
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 CD8 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 (STAT3) variant, helps to differentiate STAT3 from Dedicator of Cytokinesis 8-related Hyper-IgE-syndrome (HIES).Impaired T helper 17 cell (TH17) immunity [HIES and defects of autoimmune regulator element (AIRE), STAT-1, and interleukin17 receptor(IL17(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 (CARD9) 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.
SUMMARY:
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.
AuthorsJohannes H Sillevis Smitt, Taco W Kuijpers
JournalCurrent opinion in pediatrics (Curr Opin Pediatr) Vol. 25 Issue 4 Pg. 492-7 (Aug 2013) ISSN: 1531-698X [Electronic] United States
PMID23744097 (Publication Type: Journal Article, Review)
Topics
  • Dermatitis (etiology)
  • Dermatitis, Exfoliative (etiology)
  • Granuloma (complications)
  • Humans
  • Immunologic Deficiency Syndromes (complications, diagnosis)
  • Opportunistic Infections (complications)
  • Skin Diseases (etiology)
  • Skin Diseases, Infectious (complications)

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