Complement factor I deficiency with recurrent aseptic meningitis

Bonnin, Arturo J.; Zeitz, H; Gewurz, Anita

doi:10.1001/archinte.153.11.1380

Cited by 9 publications

(8 citation statements)

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“…[26] showed that a patient with (type I essential) hypercatabolism of C3 was homozygous for an inherited deficiency of factor I. Amadei et al . [27] recently described two sisters with complement factor I deficiency from one family, bringing the total number of cases reported to 37 individuals of 27 families [3,11–15,27–41]. Using factor I cDNA clones in Southern analysis of somatic cell hybrids, Goldberger [6] mapped the factor I gene to chromosome 4.…”

Section: Discussionmentioning

confidence: 99%

“…Bonnin et al . [40] reported a factor I‐deficient patient with recurrent aseptic Mollaret meningitis, which is self‐limited, causes no neurological damage and has an unknown aetiology. Although renal involvement has been observed in factor H (haemolytic uraemic syndrome [47] and C3‐deficient patients [48], pyelonephritis was reported previously only in factor I deficiency by Reutter‐Simon et al .…”

Section: Discussionmentioning

confidence: 99%

“…In the homozygous‐deficient patients of this study, infections started early in life. Although in complete factor I‐deficient patients the initial clinical manifestations often occur in childhood at a mean age of 2 years, some patients present symptoms later in life [33,40], due probably to other compensatory mechanisms [14].…”

Section: Discussionmentioning

confidence: 99%

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Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family

Grumach

Leitão

Arruk

et al. 2005

Clinical and Experimental Immunology

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SummaryWe report here on the evaluation of a factor I-deficient Brazilian family (three generations, 39 members) with strong consanguinity. The complete factor Ideficient patients ( n = = = = 3) presented recurrent respiratory infections, skin infections and meningitis; one of them died after sepsis. They presented an impaired total haemolytic activity (CH 50 ), low C3, low factor H and undetectable C3dg/C3d. Partial factor I deficiency was detected in 16 family members (normal low cut-off value was 25 μ μ μ μ g/ml). Respiratory infections were the most common clinical occurrence among partial factor I-deficient relatives. Two of them were submitted to nephrectomy following recurrent urinary tract infections. An additional two heterozygous relatives presented with arthritis and rheumatic fever. Apparently, patients with partial factor I deficiency are also at higher risk for recurrent infections. Vaccination against capsulated bacteria and the eventual use of prophylactic antibiotics should be considered individually in this patient group.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family

Grumach

Leitão

Arruk

et al. 2005

Clinical and Experimental Immunology

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“…These individuals have an increased incidence of pyogenic infection with encapsulated bacteria. Factor I deficiency has also been associated with glomerulonephritis with reduced levels of CR1 expression on erythrocytes and glomerular podocytes as well as with aseptic meningitis with elevated levels of immune complexes 104–106 …”

Section: Specific Complement Deficiencies and Their Clinical Significmentioning

confidence: 99%

Clinical Significance of Complement Deficiencies

Pettigrew

Teuber

Gershwin

2009

Annals of the New York Academy of Sciences

134

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The complement system is composed of more than 30 serum and membrane-bound proteins, all of which are needed for normal function of complement in innate and adaptive immunity. Historically, deficiencies within the complement system have been suspected when young children have had recurrent and difficult-to-control infections. As our understanding of the complement system has increased, many other diseases have been attributed to deficiencies within the complement system. Generally, complement deficiencies within the classical pathway lead to increased susceptibility to encapsulated bacterial infections as well as a syndrome resembling systemic lupus erythematosus. Complement deficiencies within the mannose-binding lectin pathway generally lead to increased bacterial infections, and deficiencies within the alternative pathway usually lead to an increased frequency of Neisseria infections. However, factor H deficiency can lead to membranoproliferative glomerulonephritis and hemolytic uremic syndrome. Finally, deficiencies within the terminal complement pathway lead to an increased incidence of Neisseria infections. Two other notable complement-associated deficiencies are complement receptor 3 and 4 deficiency, which result from a deficiency of CD18, a disease known as leukocyte adhesion deficiency type 1, and CD59 deficiency, which causes paroxysmal nocturnal hemoglobinuria. Most inherited deficiencies of the complement system are autosomal recessive, but properidin deficiency is X-linked recessive, deficiency of C1 inhibitor is autosomal dominant, and mannose-binding lectin and factor I deficiencies are autosomal co-dominant. The diversity of clinical manifestations of complement deficiencies reflects the complexity of the complement system.

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“…As deficiências de FI foram relacionadas com casos de infecções recidivantes e, em poucos casos, desenvolvimento de autoimunidade. Foram descritos diversos trabalhos em que deficiências de FI estão relacionadas com meningites recidivantes (Bonnin et al, 1993;Leitão et al, 1997;Ponce-Castro et al, 2008). Também foram descritos diversos trabalhos mostrando que deficiências ou polimorfismos em CFI estão relacionados com o desenvolvimento de síndrome hemolítico-urêmica atípica (Fremeaux-Bacchi et al, 2004;Kavanagh et al, 2005Kavanagh et al, , 2008Nilsson et al, 2007Nilsson et al, , 2010a.…”

Section: A Proteína Reguladora Fator Iunclassified

Avaliação genética e imunológica de famílias com deficiências nos componentes C3 ou Fator I do Sistema Complemento e a influência dessas deficiências na expressão gênica de fibroblastos de pele humana.

Delcolli¹

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Avaliamos as causas moleculares da deficiência de C3 ou de FI em 07 pacientes, chegando a caracterizar a causa molecular em cinco deles. As mutações encontradas em cada um dos pacientes foram: C3def3-C364G troca Arg102Gly; G2481C (Val807); A4956G (Val1632); FIdef2-G693A, troca Gly162Asp; FIdef3 e-4-C767T, troca Arg187Stop; FIdef6 e-7-Inserção 1382ΔAT, códon de parada prematura 13 bases a montante. Além disso, analisamos se a ausência dessas proteínas levava a alterações na expressão gênica em fibroblastos de pele de pacientes deficientes de C3 ou de FI em relação a indivíduos normais e saudáveis através de ensaios com microarranjos de cDNA. Confirmamos uma tendência à alteração da expressão através de PCR em tempo real dos genes CHNRB1, CAV1, PSMB1, PI4K2B e MASP1 nos deficientes de C3; dos genes SPRY2, PSMA5, PGM2L1, GOLPH3 e JAKMIP3 nos deficientes de FI e o gene ETV6 nos dois grupos de pacientes. Dessa forma, podemos sugerir que deficiências das proteínas C3 e FI podem possivelmente influenciar a expressão de outros genes neste tipo de célula. Palavras-chave: Sistema Complemento. C3. Fator I. Expressão gênica. Imunodeficiências. Microarranjos de cDNA.

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Complement factor I deficiency with recurrent aseptic meningitis

Cited by 9 publications

References 0 publications

Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family

Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family

Clinical Significance of Complement Deficiencies

Avaliação genética e imunológica de famílias com deficiências nos componentes C3 ou Fator I do Sistema Complemento e a influência dessas deficiências na expressão gênica de fibroblastos de pele humana.

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