Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins

Table 1 Clinical presentation in twin females with PD

Known clinical presentation of PD	Patient 1	Patient 2
Skin manifestations	Diffuse telangiectasias Ulceration of the feet	Telangiectasias one foot ulcer after 2 years
Dysmorphic features	+	+
Intellectual disability (ID)	+	+
Recurrent infections	+	+
Coexistence autoimmunity	Euthyroid autoimmune thyroiditis	−
Allergic symptoms and atopy	−	++ Bronchial asthma, allergic rhinitis, eczema, food allergy
Endocrinopathies	−	−
Pulmonary manifestations	−	−
Splenomegaly/hepatomegaly	+ / +	−/ +
Other		Arthralgia and hyperlaxity

ISSN: 1710-1492