Abstract | PURPOSE 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.
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Authors | Johannes H Sillevis Smitt, Taco W Kuijpers |
Journal | Current opinion in pediatrics
(Curr Opin Pediatr)
Vol. 25
Issue 4
Pg. 492-7
(Aug 2013)
ISSN: 1531-698X [Electronic] United States |
PMID | 23744097
(Publication Type: Journal Article, Review)
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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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