Research Article

SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies

Table 1

Clinical and demographic characteristics of the patients and controls of the study.

JIAControlsPADsPAD family members
TotalaJIAsJIATotalCVIDIgAD

Number6958111174512339
Male/female22/4715/437/436/8124/217/517/163/6
Age (years)
(mean, range)
9.8
(2.5–18.3)
9.8
(2.5–18.3)
9.9
(5.1–15.4)
9.7
(2.4–18.0)
23
(4.0–79.0)
32
(4.0–70.0)
19.7
(4.0–79.0)
50.0
(17.0–85.0)
Arthritis (n, %)a69, 10058, 10011, 1000, 07, 15.63, 25.04, 12.11, 11.1
Autoimmune manifestations (n, %)58, 84.158, 1000, 00, 028, 62.211, 91.717, 51.54, 44.4
 ITP (n, %)6, 13.33, 25.03, 9.10, 0
 AHA (n, %)2, 4.41, 8.31, 3.00, 0
 Pernicious anemia (n, %)2, 4.42, 16.70, 00, 0
 Thyroid disease (n, %)13, 28.96, 50.07, 21.21, 11.1
 Vitiligo (n, %)2, 4.41, 8.31, 3.00, 0
 Diabetes mellitus (n, %)7, 15.60, 07, 21.20, 0
 Celiac disease (n, %)3, 6.70, 03, 9.10, 0
 Others (n, %)b3, 6.70, 03, 9.12, 22.2

AHA: autoimmune hemolytic anemia; aJIA: autoimmune juvenile idiopathic arthritis; CVID: common variable immunodeficiency; JIA: juvenile idiopathic arthritis; IgAD: IgA deficiency; ITP, idiopathic thrombocytopenic purpura; PADs, primary antibody deficiencies; sJIA, systemic juvenile idiopathic arthritis. aArthritis is reported in each group regardless of the autoimmune background, bincluding patients with lupus, catastrophic antiphospholipid syndrome, Raynaud’s syndrome, and autoimmune neutropenia.