Relapsing polychondritis in a child with common variable immunodeficiency

Karaca, Neslihan Edeer; Aksu, Güzide; Yildiz, Basak; Gülez, Nesrin; Türk, Bengü Gerçeker; Dereli, Tuğrul; Kütükçüler, Necil

doi:10.1111/j.1365-4632.2009.03809.x

Cited by 16 publications

(4 citation statements)

References 18 publications

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“…Physicians should consider a diagnosis of CVID in patients with autoimmune features in order to prevent diagnostic and therapeutic delays [105]. Autoimmune cytopenias (idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and autoimmune neutropenia) are the most common and potentially severe manifestations [106,107], while other autoimmune manifestations, such as rheumatologic autoimmune disorders, are also observed in these patients [108][109][110][111][112].…”

Section: Autoimmunitymentioning

confidence: 99%

Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management

Yazdani¹,

Habibi²,

Sharifi³

et al. 2020

J Investig Allergol Clin Immunol

111

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Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is the most frequent symptomatic antibody deficiency, with a wide variety of infectious and noninfectious complications. Numerous studies have demonstrated that immunological and genetic defects are involved in the pathogenesis of CVID. However, in most cases, the genetic background of the disease remains unidentified. This review aims to discuss various aspects of CVID, including epidemiology, pathogenesis, symptoms, diagnosis, classification, and management.

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Section: Autoimmunitymentioning

confidence: 99%

Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management

Yazdani¹,

Habibi²,

Sharifi³

et al. 2020

J Investig Allergol Clin Immunol

111

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“…The frequency of autoimmune disorders in CVID patients may include approximately 30% (21-42%) of cases [10,37]. The most prevalent autoimmune disorder in patients with CVID is autoimmune cytopenia, by far the most common occurring variably in 4-20% (ITP develop in 6-14% and AIHA in 5-7%), but pernicious anemia (1-9%), RA (1-10%), IBD (6-10%), SLE, autoimmune thyroid disease, hepatitis, vitiligo, psoriasis, Sjögren syndrome, and now primary biliary cirrhosis as well as inflammatory relapsing polychondritis have also less frequently been reported [6,69,70,71,72]. It should be noted that autoimmune disorders may be the first or at the time the only clinical manifestation of CVID diagnosis [73,74].…”

Section: Autoimmunity In Padsmentioning

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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“…It usually occurs when the disruption of self-tolerance occurs. Statistically, autoimmune diseases are estimated to affect ∼20% of all patients with CVID, and the most prevalent autoimmune disorders are autoimmune cytopenias (4%−20%) (53)(54)(55). ITP is the most common autoimmune cytopenia (14).…”

Section: Discussionmentioning

confidence: 99%

Screening for Genetic Mutations for the Early Diagnosis of Common Variable Immunodeficiency in Children With Refractory Immune Thrombocytopenia: A Retrospective Data Analysis From a Tertiary Children's Center

et al. 2020

Front. Pediatr.

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Aim: This study aimed to identify common variable immunodeficiency (CVID) by high-throughput next-generation sequencing (NGS) in children with refractory immune thrombocytopenia (RITP) to facilitate early diagnosis.Methods: CVID-related genetic mutations were explored in patients with RITP during 2016–2019. They were tested consecutively through NGS by the ITP team of the tertiary children hospital in China. An evaluation system was devised based on the phenotype, genetic rule, and serum immunoglobulins (Igs) of all patients with RITP. The patients were divided into highly suspicious, suspicious, and negative groups using the evaluation system.Results: Among 176 patients with RITP, 16 (9.1%) harbored CVID-related genetic mutations: 8 (4.5%) were highly suspicious of CVIDs. Five had mutations in tumor necrosis factor receptor superfamily 13B (TNFRSF13B), one in lipopolysaccharide responsive beige-like anchor protein (LRBA), one in nuclear factor kappa-B2 (NF-κB2), and one in caspase recruitment domain11 (CARD11). Others were classified into the suspicious group because the clinical phenotype and pedigree were suggestive, yet insufficient, for diagnosis. Repeated infection existed in all patients. Two had an allergic disease. Positive autoimmune serologies were noted in 62.5%. Five had a definite positive family history. The median serum immunoglobulin (Ig)A, IgG, and IgM levels were 0.3875, 6.14, and 0.522 g/L, respectively. Nearly 85.7% of patients had insufficient serum IgA levels, while 37.5% had low IgG and IgM levels.Conclusions: High-throughput NGS and a thorough review of the medical history are beneficial for the early diagnosis of patients without any significant clinical characteristics, distinguishing them from those with primary pediatric ITP. The cases suspicious of CVID need further investigation and follow-up to avoid deterioration.

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Relapsing polychondritis in a child with common variable immunodeficiency

Cited by 16 publications

References 18 publications

Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management

Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management

Autoimmunity in Primary Antibody Deficiencies

Screening for Genetic Mutations for the Early Diagnosis of Common Variable Immunodeficiency in Children With Refractory Immune Thrombocytopenia: A Retrospective Data Analysis From a Tertiary Children's Center

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