Poor specific antibody response is a well-known primary immunodeficiency that is related to hypogammaglobulinemia or common variable immunodeficiency (CVID). The co-existence of CVID or hypogammaglobulinemia and systemic lupus erythematosus (SLE) has been rarely described. In all reported cases, the diagnosis of SLE antedates CVID.
We report a 15-year-old Saudi girl who was diagnosed with poor specific antibody response at age 6 years in the form of poor or no antibody response and dysgammaglobulinemia. She developed SLE with musculoskeletal and hematological manifestations, positive antinuclear antibody and high anti-dsDNA nine years later. She was treated with rituximab with good response.
YongPFAslamLKarimMYKhamashataMA. Management of hypogammaglobulinemia occurring in patients with systemic lupus erythematosus. Rheumatology2008; 47: 1400–1405.
2.
ChapelHCunningham-RundlesC. Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Br J Haematol2009; 145: 709–727.
3.
NotarangeloLDFischerAGehaRS. International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol2009; 124: 1161–1178.
4.
AgawalSCunningham-RundlesC. Autoimmunity in common variable immunodeficiency. Curr Allergy Rep2009; 9: 347–352.
5.
ConleyMENotarangeloLDEtzioniA. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol1999; 93: 190–190.
6.
HochbergMC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum1997; 40: 1725–1725.
7.
BoileauJMouillotGGérardL. Autoimmunity in common variable immunodeficiency: Correlation with lymphocyte phenotype in the French DEFI study. J Autoimmun2011; 36: 25–32.
8.
Fernández-CastroMMellor-PitaSCitoresMJ. Common variable immunodeficiency in systemic lupus erythematosus. Semin Arthritis Rheum2007; 36: 238–245.
9.
Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies. Clin Exp Immunol1999; 118(Suppl 1): 1–28.
10.
QuintiISoresinaASpadaroG. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol2007; 27: 308–316.
11.
Cunningham-RundlesCBodianC. Common variable immunodeficiency: Clinical and immunological features of 248 patients. Clin Immunol1999; 92: 34–48.
12.
TerrierBAmouraZRavaudP. Safety and efficacy of rituximab in systemic lupus erythematosus: Results from 136 patients from the French Autoimmunity and Rituximab registry. Arthritis Rheum2010; 62: 2458–2466.
13.
YuGPChiangDSongSJ. Regulatory T cell dysfunction in subjects with common variable immunodeficiency complicated by autoimmune disease. Clin Immunol2009; 131: 240–253.
14.
ChapelHLucasMLeeM. Common variable immunodeficiency disorders: Division into distinct clinical phenotypes. Blood2008; 112: 277–286.
15.
SalzerUChapelHMWebsterAD. Mutations in TNFRSF 13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet2005; 37: 820–828.
16.
CastigliEWilsonSAGaribyanL. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet2005; 37: 829–834.
17.
SeshasayeeDValdezPYanMDixitVMTumasDGrewalIS. Loss of TACI causes fatal lymphoproliferation and autoimmunity, establishing TACI as an inhibitory BLyS receptor. Immunity2003; 18: 279–288.
18.
ZhangLRaiganLSalzerU. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: Clinical and immunologic outcomes in heterozygotes. Allergy Clin Immunol2007; 120: 1178–1185.
19.
Torres-SalidoMCortés-HernándezJBaladaETarrésMVOrdi-RosJ. Systemic lupus erythematosus as a first presentation of common variable immunodeficiency with infrequent mannose-binding lectin gene polymorphisms. Rheumatol Int2011; 31: 537–541.
20.
SebastianiGDGaleazziM. Infection-genetics relationship in systemic lupus erythematosus. Lupus2009; 18: 1169–1175.
21.
JamesJAHarleyJBScofieldRH. Role of viruses in systemic lupus erythematosus and Sjögren syndrome. Curr Opin Rheumatol2001; 13: 370–367.
22.
ReveilleJD. The changing spectrum of rheumatic disease in human immunodeficiency virus infection. Semin Arthritis Rheum2000; 30: 147–166.
23.
NavarraSVLeynesMS. Infections in systemic lupus erythematosus. Lupus2010; 19: 1419–1424.
24.
JuárezMMisisschiaRAlarcónGS. Infections in systemic connective tissue diseases: Systemic lupus erythematosus, scleroderma, and polymyositis/dermatomyositis. Rheum Dis Clin North Am2003; 29: 163–184.
25.
GlückTMüller-LadnerU. Vaccination in patients with chronic rheumatic or autoimmune diseases. Clin Infect Dis2008; 46: 1459–1465.
26.
HolvastBHuckriedeAKallenbergCGBijlM. Influenza vaccination in systemic lupus erythematosus: Safe and protective?Autoimmune Rev2007; 6: 300–305.
