Primary immunodeficiencies and skin

Last updated on: 01.08.2022

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Primary immunodeficiencies: The term "primary immunodeficiencies, synonym: PID/immune deficiency syndromes/immune deficiency diseases" covers more than 400 different diseases of the immune system, which are characterized by a temporary or permanent disturbance of the immune function, in which the immune deficiency is congenital, occurs in families and/or can be inherited (see under primary immunodeficiencies/overview and classification).
Clinically, primary immunodeficiencies are usually, but not always (e.g. fever syndromes), manifested by a pathological susceptibility to infections. PGDs can manifest in all organs, with surface epithelia in the skin, lungs, intestines, and genitourinary tract most commonly affected.

Among PIDs,common variable immunodeficiency, or CVID, is the most common. Typical warning signs are hidden behind the acronyms:

  • ELVIS (pathogen: unusual; localization: atypical; course: long; intensity: severe; total: very common)


  • GARFIELD (granulomas, autoimmunity, recurrent fever, eczema, lymphoproliferation, intestinal inflammation).

The following table gives an alphabetically listed overview of skin changes that can occur in connection with primary immunodeficiencies:

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Primary immunodeficiencies and skin lesions- A-Z - Table varies n. Schremel S/Berneburg M

Skin abscess formation/recurrent/severe


Anaphylactic reactions

  • TACI defect/mutations in TNFRSF13B gene/selective IgA deficiency type2; in case of IgA antibodies, risk of anaphylactic reactions in case of serum or blood transfusions
  • Hereditary angioedema /mutations in the C1 esterase inhibitor gene (11q11-q13.1). Deficiency of C1 esterase inhibitor leads to activation of the complement system, which in turn leads to low plasma concentrations of complement factor C2 (see also Angioedema Hereditary/Overview) .

Atopic diathesis

  • CARD11 defect/mutation in CARD11 gene/recurrent respiratory and cutaneous viral infections, atopic diathesis, eosinophilia, food-middle-gel allergies, lymphoma.
  • Comel-Netherton syndrome /mutation in SPINK5 gene; congenital ichthyosis, bamboo hair, atopic diathesis, bacterial infections, failure to thrive. IgE elevated.

Candidiasis mucocutaneous

Dermatofibrosarcoma protuberans

Eczematous skin lesions

Eosinophilia (hematoeosinophilia)




Granulomas of the skin


Acne-like skin symptoms (hidradenitis suppurativa)

Hair abnormalities



Infections, bacterial

Infections, viral (general)

Infections, viral(herpes virus infections -HSV/EBV/cytomegaly)

Infections combined -bacterial, viral, mycotic



  • Candle syndrome (anular erythema, eyelid and lip edema, progressive peripheral lipodystrophy) Mutation in PSMB8

Livedo syndromes

  • Vasculitis, autoinflammation, immunodeficiency and hematological defects/mutation in ADA2 gene


Systemic lupus erythematosus (SLE) and SLE-like HV

Molluscum contagiosum (severe and persistent)

Susceptibility to mycobacteriosis.



  • OTULIN defect/mutationin OTUlin gene: fever, diarrhea and inflammatory exanthema (see below autoinflammation- panniculitis- dermatosis syndrome.


Palmo-plantar hyperkeratosis


Pigmentary disorders (hypo- and hyperpigmentation/cafe au lait spots)

Psoriasis and psoriasiform exanthema

Pyoderma gangraenosum

Raynaud's syndrome

Ulcerations (mucocutaneous)


Vasculitides of the skin


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Secondary or acquired immunodeficiencies: The primary immunodeficiencies are contrasted with the acquired or secondary immunodeficiencies. The best known example is AIDS (acquired immune deficiency syndrome). However, we are most often concerned with immunodeficiencies induced by immunosuppressive or immunomodulatory therapies.


Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Last updated on: 01.08.2022