Primary complement and antibody deficiencies in autoimmune rheumatologic diseases with juvenile onset: a prospective study at two centers

Spârchez, Mihaela; Lupan, Iulia; Delean, Dan; Bizo, Aurel; Damian, Laura; Muntean, Laura; Tămaș, Maria Magdalena; Bolba, Claudia; Simionescu, Bianca; Slăvescu, Cristina; Felea, Ioana; Lazăr, Călin; Spârchez, Zeno; Rednic, Simona

doi:10.1186/s12969-015-0050-8

Pediatric Rheumatology

Table 2 Clinical and immunological characteristics of the 16 patients with PID in our series

From: Primary complement and antibody deficiencies in autoimmune rheumatologic diseases with juvenile onset: a prospective study at two centers

		PID	Autoimmune disease with clinical and laboratory features	Age at AID onset	Duration of follow up (years)	Autoantibody profile	Infectious events indicative of PID
		PID	Associated conditions and complications	Age at AID onset	Duration of follow up (years)	Autoantibody profile	Infectious events indicative of PID
1	F	SIgAD	SLE/scleroderma overlap syndrome	5 for LS 16 for SLE	24	ANAs	Urinary tract infections
			Raynaud phenomena, generalized morphea, lupus nephritis, microangiopathic haemolytic anaemia, secondary antiphospholipidic syndrome, systemic arterial hypertension, diffuse interstitial pulmonary fibrosis, pulmonary hypertension			dsDNA	Pneumonias from an early age
						Sm, RNP, Histone
						Nucleosome
2	F	SIgAD	SLE associated with autoimmune hepatitis type 1	16	2	ANAs, Sm, U1 RNP	Urinary tract infections prior to AID diagnosis
			lupus malar rash, photosensitivity, synovitis, lymphopenia, low complement			Ribosomal P protein
						Nucleosome, ACA, ASMA
3	F	SIgAD	Systemic-onset JIA: polyarticular course, chronic bilateral iridocyclitis with bilateral cataract formation and band keratopathy, loss of vision	0.7	16	ANAs^a	No
4	F	SIgAD	MCTD: polyarthritis, livedo reticularis, Raynau d’s phenomenon, alopecia, Gottron’s papules, rash of dermatomyositis, one psychotic episo de, aseptic necrosis of the hip, direct Coombs ’s test, intermittent low C3 Allergic Asthma	14	13	ANAs,	Esophageal candidiasis after AID therapy
						dsDNA	Esophageal candidiasis after AID therapy
						U1 RNP	Urinary tract infections prior to AID diagnosis
						ANCAs	Urinary tract infections prior to AID diagnosis
5	M	SIgAD	Undifferentiated JIA: oligoarthritis, positive RF Allergic Asthma	9	1.5	No	No
6	F	Unclassified hypogammaglobulinaemia Complete C4BD	Systemic vasculitis (ANCA negative): fever, myalgia, a rthralgia, livedo reticularis, maculopapular rash, III and VI cranial nerve palsy, transient ischemic attack, haemorrhagic stroke with right hemiparesis, thrombocytopenia, nodular regenerative hyperplasia of the liver, splenomegaly, growth retardation	2.5	4	No	Pneumonias prior to AID diagnosis
7	F	Unclassified hypogammaglobulinaemia	Systemic vasculitis (ANCA negative): fever, myalgia, livedo reticularis, cutaneous nodules, systemic arterial hypertension, abdominal recurrent pain, massive intestinal bleeding; bicuspid aortic valve disease with aortic valve insufficiency	6.5	2	No	Severe Epstein-Barr virus-induced acute infectious mononucleosis at the age of 3
8	F	Homozygous C2D	SLE: photosensitive lupus rash, oral ulcers, synovitis, perniosis, serum high CIC levels	12	2.5	ANAs	No
8	F	Homozygous C2D		12	2.5	SS-A, Ro 52	No
9	F	Heterozygous C2 D	SLE: malar rash, synovitis, lupus nephritis, thrombocytopenia, leukopenia, hemolytic anemia, low serum C3 and C4 levels, serum high CIC levels, renal transplantation	12	2.5	ANAs^b	No
9	F	Heterozygous C2 D		12	2.5	dsDNA	No
10	M	Heterozygous C2 D	Seronegative polyarticular JIA, Bronchogenic cyst with surgical resection in infancy	8	11	ANAs in low titers^b	No
11	F	Complete C4B deficiency	SLE: lupus nephritis, polisynovitis, photosensitive lupus rash, low serum C3 and C4 levels, serum high CIC levels, secondary antiphospholipidic syndrome	12	1.5	ANAs, dsDNA, Histone, pANCA	No
11	F	Complete C4B deficiency		12	1.5	ACA, β2 GP	No
12	F	Complete C4B deficiency	Systemic-onset JIA: fever, polyarthritis, evanescent rash, myalgias	7	9	No	No
13	F	Complete C4B deficiency	Oligoarticular JIA	1.5	0.5	No	No
14	F	Partial C4A deficiency	SLE: Raynaud phenomena, lupus nephritis, systemic arterial hypertension, secondary vasculitis, synovitis, livedo reticularis, pericarditis, secondary antiphospholipidic syndrome, low serum C3 and C4 levels	10	30	ANAs, Ro (SS-A)	Pulmonary tuberculosis at 35 years old
						dsDNA, pANCA
						ACA- IgG
15	F	Partial C4A deficiency	SLE associated with autoimmune hepatitis type 1: fever, synovitis, lupus malar rash, oral ulcers, serositis, haemolytic anaemia, secondary cutaneous vasculitis, Libman-Sacks endocarditis	15	5	ASMA, ACA, ANAs^§	Pulmonary tuberculosis at 15 years old
16	F	Partial C4A deficiency	Undifferentiated JIA: oligoarthritis, positive RF, bilateral chronic iridocyclitis with loss of vision	7.3	3	ANAs^§	No

AIH autoimmune hepatitis, ACA anti-cardiolipin antibodies, ANAs antinuclear antibodies, C4D C4 deficiency, C2D C2 deficiency; CVID common variable immunodeficiency, dsDNA antibodies to double stranded DNA, F female, Ig Immunoglobulin, JIA Juvenile Idiopathic Arthritis, LS localized scleroderma, M male, MCTD mixed connective tissue disease, RF rheumatoid factor, SIgAD selective IgA deficiency, SLE systemic lupus erythematosus, β2 GP anti-β2-glycoprotein I antibodies
^aNegative ANA profile test (immunoblot), despite high titers of ANAs on indirect immunofluorescence (1/1280; homogeneous pattern)
^bANAs profile not available

Back to article page

ISSN: 1546-0096

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com