Dermatitis
STAT3 Deficiency (Hyper IgE Syndrome) - Patients classically develop a newborn rash followed by an eczematoid rash within the first month of life (first affecting the scalp and face). Recurrent cutaneous abscess formation with S. aureus is common.
DOCK8 Deficiency - Patients also develop atopic dermatitis at high frequency which becomes superinfected with Staph aureus. Viral cutaneous infections also appear to be a hallmark of this disease.
Wiskott-Aldrich Syndrome - The classic form of this disease is characterized by atopic dermatitis, thrombocytopenia, and combined immunodeficiency. Eczema is not present in patients with milder forms of disease such as X-linked thrombocytopenia.
IPEX Syndrome - The majority of patients have skin disease which manifests as atopic dermatitis. However, erythroderma, exfoliative dermatitis, psoriasis-like lesions, and pemphigous nodularis have also been observed. Patients also develop infant-onset severe enteropathy with villous atrophy and autoimmune disease such as Type I diabetes, thyroid disease, or autoimmune cytopenias.
Omenn Syndrome - Patients develop generalized erythroderma or an eczematous rash with scaling. This rash may result in alopecia or loss of eyebrows/lashes. Oligoclonally expanded T cells infiltrate the skin - biopsies may reveal a lymphocytic infiltrate of CD3+CD4+ T cells
Netherton syndrome - This disease is caused by mutations in SPINK5 and is characterized by severe dermatitis, icthyosis, erythroderma, bamboo hair, and immunodeficiency (hypogammaglobulinemia, specific antibody deficiency, low switched memory B cells, and decreased NK cell function). Staphylococcal skin infections and upper respiratory infections are common.
Acrodermatitis enterohepatica - This is an autosomal recessive disorder of impaired zinc absorption. Infants have severe dermatitis, alopecia, diarrhea, and zinc deficiency despite normal dietary intake. Zinc deficiency can cause secondary immune defects (both depressed humoral and cell-mediated immunity).
Papillon-Lefevre Syndrome - This disease is caused by mutations in the cathepsin C gene which leads to defective neutrophil function. It is characterized by hyperkeratosis (skin thickening) of the palms, soles, knees, and elbows. Patients also have premature loss of both primary and secondary teeth.