Syndromes

Question 1

immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)

Answer 1

X linked. Mutations in the FOXP3 gene cause some cases of IPEX syndrome. This protein is essential for the production and normal function of certain immune cells called regulatory T cells. Thus, the body cannot control immune responses and normal body tissues are attacked.

• Autoimmune blood disorders are common; about half of affected individuals have low levels of red blood cells (anemia), platelets (thrombocytopenia), or white blood cells (neutropenia)
• Endocrinopathies include Type 1 DM, hypothyoridism.
• Enteropathy typically begins in the first few months of life. It can cause failure to gain weight and grow at the expected rate (failure to thrive) and general wasting and weight loss (cachexia).

Question 2

Omenn syndrome

Answer 2

Autosomal recessive mutation in the RAG1 or RAG2 gene
Characteristic symptom is chronic inflammation of the skin, which appears as early onset erythroderma with severe immunodeficiency with protein losing enteropathy characterized by the presence of anergic oligoclonal T-cells, hypereosinophilia, and high IgE levels. Therefore, a normal ALC does not exclude SCID (and also may have swollen lymph nodes as well as hepatosplenomegaly.

Question 3

Hyper Ig-E (Jobs syndrome)

Answer 3

Autosomal dominant mutation in the STAT 3 gene causing Eczema, recurrent staphylococcal skin abscesses, recurrent lung infections, eosinophilia (a high number of eosinophils in the blood) and high serum levels of IgE.
Clinical features include hyper-extensibility of joints, retained primary teeth and recurrent bone fractures secondary to even minimal trauma

Question 4

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

Answer 4

Autosomal recessive mutation in the AIRE gene. This autoimmune condition commonly involves three characteristic features: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal gland insufficiency.