Table 2.

Prolidase Deficiency: Frequency of Select Features

Feature% of Persons
w/Feature		Comment
Dysmorphic facial features66%
Skin ulcers62%Most commonly affecting lower extremities, particularly feet
ID/DD58%IQ ranging from 30 to 90 1 in those who have undergone IQ testing (n=18)
Recurrent infections48%Commonly sinopulmonary infections or gastroenteritis
Organomegaly45%Mostly splenomegaly, rarely (14%) accompanied by hepatomegaly
Skeletal findings34%Incl hand/feet (14%) & other limb (6%) abnormalities, osteopenia (7%), joint hypermobility (7%), or arthritis (5%)
Anemia30%
Thrombocytopenia18%
Chronic pulmonary disease12%Excl asthma (7%)
Autoimmune disease12%Incl SLE or SLE-like features, rhupus, 2 autoimmune GI disease or arthritis
Hypergammaglobulinemia15%Incl hyper IgG & hyper IgE

DD = developmental delay; GI = gastrointestinal; ID = intellectual disability; IgG = immunoglobulin G; IgE = immunoglobulin E; SLE = systemic lupus erythematosus

1.

The formal medical definition of intellectual disability is an IQ score lower than 70. Individuals with an IQ score equal to or above 70 may still have delays in the acquisition of milestones but would not be considered to have intellectual disability.

2.

Rhupus is a condition in which individuals have features of both rheumatoid arthritis and SLE, often in a sequential manner.

From: Prolidase Deficiency

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