Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome

DePiero, Andrew D.; Lourie, Eli M.; Berman, Brian; Robin, Nathaniel H.; Zinn, Arthur B.; Hostoffer, Robert

doi:10.1016/s0022-3476(97)80085-6

Cited by 63 publications

(44 citation statements)

References 10 publications

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“…This has been reported in patients with partial DiGeorge anomaly who do not receive transplants. [41][42][43] Nephrotic syndrome and enteritis were seen in one subject each. Six subjects developed thyroid disease before, and 5 subjects developed thyroid disease after transplantation.…”

Section: Discussionmentioning

confidence: 99%

Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants

Markert

Devlin

Alexieff

et al. 2007

Blood

194

339

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The purpose of this study was to characterize a large group of infants with complete DiGeorge anomaly and to evaluate the ability of thymus transplantation to reconstitute immune function in these infants. DiGeorge anomaly is characterized by varying defects of the heart, thymus, and parathyroid glands. Complete DiGeorge anomaly refers to the subgroup that is athymic (< 1%). The characteristics of 54 subjects at presentation and results from 44 consecutive thymus transplantations are reported. Remarkably, only 52% had 22q11 hemizygosity and only 57% had congenital heart disease requiring surgery. Thirty-one percent developed an atypical phenotype with rash and lymphadenopathy. To date, 33 of 44 subjects who received a transplant survive (75%) with post-transplantation follow-up as long as 13 years. All deaths occurred within 12 months of transplantation. All 25 subjects who were tested 1 year after transplantation had developed polyclonal T-cell repertoires and proliferative responses to mitogens. Adverse events developing after transplantation included hypothyroidism in 5 subjects and enteritis in 1 subject. In summary, diagnosis of complete DiGeorge anomaly is challenging because of the variability of presentation. Thymus transplantation was well tolerated and resulted in stable immunoreconstitution in these infants. (Blood. 2007; 109: [4539][4540][4541][4542][4543][4544][4545][4546][4547]

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Section: Discussionmentioning

confidence: 99%

Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants

Markert

Devlin

Alexieff

et al. 2007

Blood

194

339

View full text Add to dashboard Cite

show abstract

“…Currently, there are no biomarkers to identify or predict which patients will develop autoimmune features [71]. A range of autoimmune features have been described including cytopenias, systemic autoimmunity, particularly rheumatoid arthritis, and organspecific autoimmunity, most notably autoimmune thyroid disease [71,83,84,86,[94][95][96][97]. Other immunological abnormalities, including IgA deficiency may be associated [85].…”

Section: Presenting and Immunological Featuresmentioning

confidence: 99%

Immunological aspects of 22q11.2 deletion syndrome

Gennery

2011

Cell. Mol. Life Sci.

101

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Chromosome 22q11 deletion is the most common chromosomal deletion syndrome and is found in the majority of patients with DiGeorge syndrome and velo-cardio-facial syndrome. Patients with CHARGE syndrome may share similar features. Cardiac malformations, speech delay, and immunodeficiency are the most common manifestations. The immunological phenotype may vary widely between patients. Severe T lymphocyte immunodeficiency is rare-thymic transplantation offers a new approach to treatment, as well as insights into thymic physiology and central tolerance. Combined partial immunodeficiency is more common, leading to recurrent sinopulmonary infection in early childhood. Autoimmunity is an increasingly recognized complication. New insights into pathophysiology are reviewed.

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“…A few anecdotal reports have described immune cytopenias and ITP in children with 22q11 deletions (DiGeorge syndrome). 111,112 Additional studies are required to determine the extent to which autoimmune diseases occur in patients with this T-cell immunodeficiency.…”

Section: Org Frommentioning

confidence: 99%

Autoimmunity in human primary immunodeficiency diseases

Arkwright

Abinun

Cant

2002

Blood

162

106

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Human primary immunodeficiency diseases are experiments of nature characterized by an increased susceptibility to infection. In many cases, they are also associated with troublesome and sometimes life-threatening autoimmune complications. In the past few years, great strides have been made in understanding the molecular basis of primary immunodeficiencies, and this had led to more focused and successful treatment. This review has 3 aims: (1) to highlight the variety of autoimmune phenomena associated with human primary immunodeficiency diseases; (2) to explore how primary immunodeficiencies predispose patients to autoimmune phenomena triggered by opportunistic infections; and (3) to consider the rationale for the current treatment strategies for autoimmune phenomena, specifically in relation to primary immunodeficiency diseases. Reviewing recent advances in our understanding of the small subgroup of patients with defined causes for their autoimmunity may lead to the development of more effective treatment strategies for idiopathic human autoimmune diseases. (Blood. 2002;99:2694-2702

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Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome

Cited by 63 publications

References 10 publications

Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants

Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants

Immunological aspects of 22q11.2 deletion syndrome

Autoimmunity in human primary immunodeficiency diseases

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