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Literature DB >> 6790209

Familial C1q deficiency associated with renal and cutaneous disease.

F Leyva-Cobián, I Moneo, F Mampaso, M Sánchez-Bayle, J L Ecija, A Bootello.

Abstract

A familial C1q deficiency of complement in three siblings has been established. The patients were two brothers and a sister (12, 11 and 9 years old) with clinical and pathological features of Rothmund-Thomson syndrome (Poikiloderma congenital) and mesangial proliferative glomerulonephritis with diffuse IgM deposits. Abnormality has been defined as a total lack of CH50 haemolytic activity, undetectable C1q, failure to correct the defect with functionally pure C2 to C9 complement components, normal values for C2, C3, C4 and C5 and restoration of CH50 haemolytic activity when purified human C1q was added to the assay.

Entities: Disease Gene Species

Mesh：

Substances：
Complement C1

Year: 1981 PMID： 6790209 PMCID： PMC1537222

Source DB: PubMed Journal: Clin Exp Immunol ISSN： 0009-9104 Impact factor: 4.330

27 in total

1. C1q: isolation from human serum in high yield by affinity chromatography and development of a highly sensitive hemolytic assay.

Authors: W P Kolb; L M Kolb; E R Podack
Journal: J Immunol Date: 1979-05 Impact factor: 5.422

2. Precise standardization of reagents for complement fixation.

Authors: J F KENT; E H FIFE
Journal: Am J Trop Med Hyg Date: 1963-01 Impact factor: 2.345

3. Inborn C1r dificiency with a mild lupus-like syndrome.

Authors: K C Rich; J Hurley; H Gewurz
Journal: Clin Immunol Immunopathol Date: 1979-05

4. Relationships between the haemolytic activities of the human complement system and complement components.

Authors: A Takada; Y Imamura; Y Takada
Journal: Clin Exp Immunol Date: 1979-02 Impact factor: 4.330

5. [Unusual complement deficiency in a patient with disseminated lupus erythematosus].

Authors: K W Pondman; A Hannema; R Cormane; J W Stoop
Journal: Ned Tijdschr Geneeskd Date: 1969-08-23

6. Decreased C'-1q protein concentration and agglutinating activity in agammaglobulinaemia syndromes: an inborn error reflected in the complement system.

Authors: H Gewurz; R J Pickering; C L Christian; R Snyderman; S E Mergenhagen; R A Good
Journal: Clin Exp Immunol Date: 1968-06 Impact factor: 4.330

7. Clinical and immunological studies in a case of selective complete C1q deficiency.

Authors: A I Berkel; M Loos; O Sanal; G Mauff; Y Güngen; U Ors; F Ersoy; O Yegin
Journal: Clin Exp Immunol Date: 1979-10 Impact factor: 4.330

8. A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis.

Authors: R A Thompson; M Haeney; K B Reid; J G Davies; R H White; A H Cameron
Journal: N Engl J Med Date: 1980-07-03 Impact factor: 91.245

9. Familial deficiency of two subunits of the first component of complement. C1r and C1s associated with a lupus erythematosus-like disease.

Authors: S L Lee; S L Wallace; R Barone; L Blum; P H Chase
Journal: Arthritis Rheum Date: 1978 Nov-Dec

10. Simultaneous occurrence of hereditary C6 and C2 deficiency in a French-Canadian family.

Authors: J M Delâge; G Lehner-Netsch; R Lafleur; J Simard; G Brun; E Prochazka
Journal: Immunology Date: 1979-06 Impact factor: 7.397

10 in total

Review 1. Complement deficiency.

Authors: K M O'Neil
Journal: Clin Rev Allergy Immunol Date: 2000-10 Impact factor: 8.667

2. Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.

Authors: Alberto López-Lera; Juan M Torres-Canizales; Sofía Garrido; Adelaida Morales; Margarita López-Trascasa
Journal: J Invest Dermatol Date: 2013-10-24 Impact factor: 8.551

Familial C1q deficiency associated with renal and cutaneous disease.

1. C1q: isolation from human serum in high yield by affinity chromatography and development of a highly sensitive hemolytic assay.

2. Precise standardization of reagents for complement fixation.

3. Inborn C1r dificiency with a mild lupus-like syndrome.

4. Relationships between the haemolytic activities of the human complement system and complement components.

5. [Unusual complement deficiency in a patient with disseminated lupus erythematosus].

6. Decreased C'-1q protein concentration and agglutinating activity in agammaglobulinaemia syndromes: an inborn error reflected in the complement system.

7. Clinical and immunological studies in a case of selective complete C1q deficiency.

8. A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis.

9. Familial deficiency of two subunits of the first component of complement. C1r and C1s associated with a lupus erythematosus-like disease.

10. Simultaneous occurrence of hereditary C6 and C2 deficiency in a French-Canadian family.

Review 1. Complement deficiency.

2. Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.

Review 3. Lupus diseases associated with hereditary and acquired deficiencies of complement.

4. A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual.

5. IgG4 deficiency with Rothmund-Thomson syndrome: a case report.

6. A complete selective C1q deficiency in a patient with discoid lupus erythematosus (DLE).

7. Role of complement component C1q in phagocytosis of Listeria monocytogenes by murine macrophage-like cell lines.

8. Systemic lupus erythematosus and C1q: A quantitative ELISA for determining C1q levels in serum.

9. SLE like syndrome and functional deficiency of C1q in members of a large family.

10. Complement interaction with trypanosomatid promastigotes in normal human serum.