2011
DOI: 10.1159/000330335
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Cutaneous Granulomas in Ataxia Telangiectasia and Other Primary Immunodeficiencies: Reflection of Inappropriate Immune Regulation?

Abstract: Background: Non-infective cutaneous granulomas with unknown pathogenesis occur in various primary immunodeficiencies (PIDs) including ataxia telangiectasia (A-T). Objective: To find a common immunological denominator in these cutaneous granulomas. Methods: The dermatological and immunological features of 4 patients with A-T and cutaneous granulomas were described. The literature on skin granulomas in A-T and in other PIDs is reviewed. Results: All 4 A-T patients had progressive granulomas on their limbs and sh… Show more

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Cited by 60 publications
(70 citation statements)
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References 85 publications
(82 reference statements)
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“…In addition to increased susceptibility to infections, these patients can present a broad range of symptoms such as autoimmunity, granulomatous inflammation, lymphoproliferation, and increased risk of malignancy [66,67]. Granulomatous inflammation has been reported in patients with various genetic defects (Table 5), mainly hypomorphic recombination-activating gene (RAG) mutations [68], hypomorphic Artemis deficiency [69], hypomorphic JAK3 deficiency [70], CD40L deficiency [71], ataxia telangiectasia [72], Nijmegen breakage syndrome [73], cartilage hair hypoplasia [74], and lipopolysaccharideresponsive beige-like anchor (LRBA) deficiency [75]. It has also been reported in a patient as a complication of low immune reconstitution after a haploidentical hematopoietic stem cell transplantation (HSCT) for an X-linked SCID [76].…”
Section: Systemic Granulomatous Disordersmentioning
confidence: 99%
“…In addition to increased susceptibility to infections, these patients can present a broad range of symptoms such as autoimmunity, granulomatous inflammation, lymphoproliferation, and increased risk of malignancy [66,67]. Granulomatous inflammation has been reported in patients with various genetic defects (Table 5), mainly hypomorphic recombination-activating gene (RAG) mutations [68], hypomorphic Artemis deficiency [69], hypomorphic JAK3 deficiency [70], CD40L deficiency [71], ataxia telangiectasia [72], Nijmegen breakage syndrome [73], cartilage hair hypoplasia [74], and lipopolysaccharideresponsive beige-like anchor (LRBA) deficiency [75]. It has also been reported in a patient as a complication of low immune reconstitution after a haploidentical hematopoietic stem cell transplantation (HSCT) for an X-linked SCID [76].…”
Section: Systemic Granulomatous Disordersmentioning
confidence: 99%
“…Fewer than 10% of people with A-T develop chronic cutaneous granulomas that are thought to be due to disordered inflammation [35, 36]. …”
Section: Introductionmentioning
confidence: 99%
“…Furthermore, there are several reports on patients presenting with chronic cutaneous granulomas and pulmonary inflammation without apparent underlying infections. [14][15][16][17] Although the immune defects in the adaptive arm of the immune system associated with this disease have been well studied, the effects on the innate immune system remain poorly understood.…”
Section: Introductionmentioning
confidence: 99%