Genetic Syndromes with Evidence of Immune Deficiency

Ming, Jeffrey E.; Graham, John M.

doi:10.1016/b978-0-12-405546-9.00012-1

Cited by 3 publications

(2 citation statements)

References 419 publications

(313 reference statements)

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“…However, over the past decades abnormalities in the blood B and T cell compartments, decreased IgM, IgG2 and IgG4 levels and poor immunoglobulin response to vaccinations have been demonstrated in Down syndrome [ 24 ]. Down syndrome is therefore recognized as a SPID and in recent years various other SPIDs have been identified, amongst others diGeorge syndrome [ 25 , 26 ]. These SPIDs are disorders in which not only the immune system but also other organ systems are affected and in contrast to other primary immunodeficiencies, other features than the immune defects are the presenting symptoms [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

et al. 2015

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BackgroundJacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. Clinical features include physical and mental growth retardation, facial dysmorphism, thrombocytopenia, impaired platelet function and pancytopenia. In case reports, recurrent infections and impaired immune cell function compatible with immunodeficiency were described. However, Jacobsen syndrome has not been recognized as an established syndromic primary immunodeficiency.GoalTo evaluate the presence of immunodeficiency in a series of 6 patients with JS.MethodsMedical history of 6 patients with JS was evaluated for recurrent infections. IgG, IgA, IgM and specific antibodies against S. pneumoniae were measured. Response to immunization with a polysaccharide vaccine (Pneumovax) was measured and B and T lymphocyte subset analyses were performed using flowcytometry.ResultsFive out of 6 patients suffered from recurrent infections. These patients had low IgG levels and impaired response to S. pneumoniae polysaccharide vaccination. Moreover, we also found a significant decrease in the absolute number of memory B cells, suggesting a defective germinal center function. In a number of patients, low numbers of T lymphocytes and NK cells were found.ConclusionsMost patients with JS suffer from combined immunodeficiency in the presence of recurrent infections. Therefore, we consider JS a syndromic primary immunodeficiency. Early detection of immunodeficiency may reduce the frequency and severity of infections. All JS patients should therefore undergo immunological evaluation. Future studies in a larger cohort of patients will more precisely define the pathophysiology of the immunodeficiency in JS.Electronic supplementary materialThe online version of this article (doi:10.1007/s10875-015-0211-z) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

et al. 2015

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“…Her PHC is not related to primary pulmonary hypertension, but all of her pneumonia attacks cause PHC. The patients with Seckel syndrome are genetically heterogeneous, and chromosomal fragility, hypogammaglobulinemia, and pancytopenia have been noted 14,15 . So, these patients are prone to immune deficiency, and the recurrent pneumonia cases may be associated with Seckel syndrome.…”

Section: Discussionmentioning

confidence: 99%

Pulmonary hypertensive crisis: A potential reason for right ventricle and pacemaker lead failure

Aydemir

Kafalı

Gemici

et al. 2021

Pacing Clinical Electrophis

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Cardiac pacemakers have improved patient survival and quality of life, although malfunctions can be seen. We present the case of a girl with Seckel syndrome and congenital complete heart block. She had a single chamber permanent pacemaker in the right ventricle. When she referred us with a pulmonary hypertensive crisis (PHC), it was seen that the device was not pacing even in maximum threshold and pulse width values. After new epicardial lead implantation into the left ventricular apex, capture could be established again. For the cases presenting with capture failure, after eliminating lead‐related problems and biochemical abnormalities, PHC should be kept in mind as a reason.

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Numerical and Structural Chromosomal Abnormalities Associated with Immunodeficiency

et al. 2021

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Genetic Syndromes with Evidence of Immune Deficiency

Cited by 3 publications

References 419 publications

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

Pulmonary hypertensive crisis: A potential reason for right ventricle and pacemaker lead failure

Numerical and Structural Chromosomal Abnormalities Associated with Immunodeficiency

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