Immune deficiency with skin involvement

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Immune deficiency with skin involvement

ORPHA:79391Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ANKZF1CARD11CIB1CLEC7ACXCR4CYBACYBBCYBC1DOCK11ERBINIL17FIL17RAIL17RCIL6RIL6STIL7LYSTNCF1NCF2NCF4PLCG2RAB27ARAG1RAG2RELASLC39A7STAT3TMC6TMC8TRAF3IP2WASWIPF1ZNF341

Orphanet records these genes on 20 more specific entries under this disorder, not on this entry itself:

Agammaglobulinemia-skin involvement-failure to thrive syndromeAutosomal dominant combined immunodeficiency due to ERBIN deficiencyAutosomal dominant hyper-IgE syndrome due to STAT3 deficiencyAutosomal recessive combined immunodeficiency due to IL6R deficiencyAutosomal recessive combined immunodeficiency due to partial IL6ST deficiencyAutosomal recessive hyper-IgE syndrome due to ZNF341 deficiencyCADINS diseaseChédiak-Higashi syndromeChronic granulomatous diseaseChronic mucocutaneous candidiasisCombined immunodeficiency with granulomas and/or autoimmunity due to RAG defectCongenital thrombocytopenia-recurrent infections syndrome due to WIP deficiencyEarly-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiencyEarly-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndromeGriscelli syndrome type 2Inherited epidermodysplasia verruciformisPLCG2-associated antibody deficiency and immune dysregulationRELA haploinsufficiency-associated inflammatory diseaseWHIM syndromeWiskott-Aldrich syndrome

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 19305UMLS C5681476

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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