Autoinflammation & PLCG2-associated Antibody Deficiency and Immune Dysregulation (APLAID)

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Acronym:
APLAID

SAID group:
PLCG2-associated

Gene:
PLCG2 mutation

Inheritance:
Autosomal dominant.

Ethnicity:
Unknown

Frequency:
Unknown but rare.

Timing of symptoms:
Recurrent skin lesions, chronic inflammation, and progressive eye complications from this disease. [66] [67] [68]

Age of onset:
Onset in infancy with recurrent skin lesions, arthralgia, eye inflammation, and infections. Some with intestinal symptoms. [68]

Skin cutaneous:
Erythematous plaques and vesiculopustular blistering rash that intensifies with heat & sun exposure. Cellulitis often develops with rashes. [66] [67]

Neurologic:
Not noted. [66] [67] [68] No fevers noted as a part of this disease (but fevers may be present with infections). [66] [67] [68]

Auditory:
Not noted. [66]

Ophthalamic:
Many develop corneal erosions, blisters, ulcerations, intraocular hypertension, and/or cataracts. [66] [67] [68]

Cardiopulmonary:
Mild humoral immunodeficiency with increased frequency of sinus and/or respiratory infections or interstitial pneumonia. [66] [67]

Abdominal:
Some with bouts of abdominal pain, bloody diarrhea, enterocolitis, or ulcerative colitis. [67] [68]

Lymphatic:
Not noted. [67] [68]

Joints bones muscles cartilage:
Not noted. [67] [68]

Vasculitis:
Not noted. [67] [68]

Amyloidosis:
Not noted. [67] [68]

Abnormal labs:
Low circulating IgA, IgM antibodies, decreased class-switched memory B cells & NK T cells. ANA negative. [67] [68]

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