Membranoproliferative Glomerulonephritis and X-Linked Agammaglobulinemia: An Uncommon Association

Lavrador, Vasco; Correia, Filipa; Sampaio, Rita; Cândido, Cristina; Faria, Maria do Sameiro; Marquès, Laura; Mota, Conceição

doi:10.1155/2014/480947

Cited by 6 publications

(3 citation statements)

References 7 publications

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“…[10] The most common autoimmune disorders in primary antibody deficiencies are immune thrombocytopenic purpura and autoimmune hemolytic anemia. [11] Moreover, other diseases including autoimmune thyroid disease, [12] type 1 diabetes, [13] rheumatoid arthritis, [14] SLE, [15] dermatomyositis, [16] inflammatory bowel diseases, [17] alopecia areata, [15] vitiligo, [12] and glomerulonephritis [18] are also common in primary antibody deficiencies due to the lack of self-tolerance. [19]…”

Section: Discussionmentioning

confidence: 99%

A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus

Li¹,

Liu²,

Guan³

et al. 2019

Medicine

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Rationale: Gain of function (GOF) mutations in PIK3CD gene encoding PI3K p110δ were recently associated with a novel combined immune deficiency characterized by recurrent sinopulmonary infections, CD 4 + lymphopenia, reduced class-switched memory B cells, lymphadenopathy, cytomegalovirus and/or epstein-Barr virus (EBV) viremia, and EBV-related lymphoma. A subset of affected patients also had elevated serum IgM. Patient concerns: We report a patient who was diagnosed with systemic lupus erythematosus (SLE) at a young age and was recently found to carry heterozygous mutations in PIK3CD . The patient not only presented with recurrent sinopulmonary infections, CD 4 + lymphopenia, lymphadenopathy, EBV viremia, and elevated serum IgM, but also met classification criteria of SLE based on persistent proteinuria and hematuria, leukopenia and anemia, low level of serum complement, and positive autoantibody for antinuclear antibodies. Diagnoses: Activated PI3Kδ syndrome. Interventions: Oral prednisolone and hydroxychloroquine combined with mycophenolate mofetil was given to the patient. He was currently receiving intravenous immunoglobulin per month in association with hydroxychloroquine, low-dose prednisolone, and mycophenolate mofetil. Outcomes: At present, the level of complement restored to normal, hematuria and proteinuria disappeared, and liver function returned to normal. Lessons: SLE may be a novel phenotype of GOF mutation in PI3CKD gene (GOF PIK3CD).

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Section: Discussionmentioning

confidence: 99%

A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus

Li¹,

Liu²,

Guan³

et al. 2019

Medicine

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“…The most common autoimmune disorders in PADs are immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) [7]. Moreover, other diseases including autoimmune thyroid disease [8], type 1 diabetes (T1D) [9], rheumatoid arthritis (RA) [10], systemic lupus erythematosus (SLE) [11], dermatomyositis [12], inflammatory bowel diseases (IBD) [13], alopecia areata [11], vitiligo [8], and glomerulonephritis [14] are also common in PADs due to the lack of self-tolerance [15]. …”

Section: Introductionmentioning

confidence: 99%

Autoimmunity in Primary Antibody Deficiencies

Azizi¹,

Ahmadi²,

Abolhassani³

et al. 2016

Int Arch Allergy Immunol

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Primary antibody deficiencies (PADs) are the most common inherited primary immunodeficiencies in humans, characterized by hypogammaglobulinemia, an inability to produce specific antibodies, and recurrent infections mainly caused by encapsulated bacteria. However, it has been shown that inflammatory disorders, granulomatous lesions, lymphoproliferative diseases, cancer, and autoimmunity are associated with the various types of PAD. Both systemic and organ-specific autoimmune diseases could be attributed to B-cell defects in PAD patients. Immune thrombocytopenic purpura and autoimmune hemolytic anemia are the most common autoimmune disorders in this group of patients. The aim of this review is to describe the proposed mechanisms for autoimmunity and to review the literature with respect to the reported autoimmune disorders in each type of PAD.

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“…Despite XLA patients exhibiting low serum immunoglobulin concentrations and defective antibody responses, they have an increased risk of developing autoimmune diseases such as juvenile idiopathic arthritis, juvenile dermatomyositis, inflammatory bowel disease, and Kawasaki disease [ 3 , 4 ]. Renal involvement in XLA is rarely observed, and previous studies have reported instances of membranoproliferative glomerulonephritis (MPGN) and membranous glomerulopathy (MG) in XLA patients receiving intravenous immunoglobulin (IVIG) therapy [ 5 – 7 ]. In this present study, we describe the first case of immunoglobulin (Ig) A nephropathy associated with XLA.…”

Section: Introductionmentioning

confidence: 99%

IgA nephropathy in a child with X-linked agammaglobulinemia: a case report

Song,

Sun,

Feng

et al. 2024

BMC Pediatr

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Background X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the Bruton tyrosine kinase (BTK) gene. Individuals diagnosed with XLA are at an increased risk of developing autoimmune diseases. However, renal involvement are rare in cases of XLA. Case presentation In this report, we discussed a specific case involving a 6-year-old boy with XLA who experienced recurrent upper respiratory tract infections since the age of one. He presented with symptoms of hematuria and proteinuria, and renal pathology confirmed the presence of immunoglobulin (Ig) A nephropathy. Treatment comprised glucocorticoids, mycophenolate mofetil, and intermittent intravenous immunoglobulin replacement therapy. Consequently, there was a remission of proteinuria and a partial improvement in hematuria. Conclusions In this study, we describe the first case of IgA nephropathy associated with XLA. This is an interesting phenotype found in XLA, and it provides valuable insights into the process of autoimmunity and the regulation of immune function in individuals with XLA. Based on our findings, we recommend the evaluation of immunoglobulin levels in patients diagnosed with IgA nephropathy.

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Membranoproliferative Glomerulonephritis and X-Linked Agammaglobulinemia: An Uncommon Association

Cited by 6 publications

References 7 publications

A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus

A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus

Autoimmunity in Primary Antibody Deficiencies

IgA nephropathy in a child with X-linked agammaglobulinemia: a case report

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