Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome

Patel, Kiran; Akhter, Javeed; Kobrynski, Lisa; Gathman, Benjamin; Davis, Onika; Sullivan, Kathleen E.

doi:10.1016/j.jpeds.2012.06.018

Cited by 67 publications

(57 citation statements)

References 11 publications

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“…Another contrast is the reported prevalence of immunoglobulin abnormalities in 22q11.2 deletion syndrome of 6% in recent studies 44,45 and 40% in older reports, 42,43 with the prevalence of 61% in our collected cohort. However, we only had information on immunoglobulin levels from 33 of 59 (56%) patients.…”

Section: Immunological Abnormalities Reported In Charge Syndromecontrasting

confidence: 97%

“…42,43 Recent studies indicate that the antibody deficiency in 22q11.2 deletion syndrome is likely to be underestimated. 44, 45 Patel et al 44 have reported immunoglobulin deficiency in the largest cohort (n = 855) to date and concluded that 6% of the patients over the age of three had Abbreviations: A, choanal atresia or stenosis, including cleft palate since these anomalies rarely occur together; C, coloboma or microphthalmia; CN, cranial nerve dysfunction; d, day(s); E, ear anomalies; F, female; G, genital anomalies; H, heart anomalies; HL, hearing loss; HP, hypoplasia; M, male; mo, month(s); N, normal; n, number of patients; PCP, Pneumocysitis carnii pneumonia; R, retardation in development and/or growth; SCID, severe combined immune deficiency; SSC, semicircular canals anomalies; TE, tracheoesophageal defects; U, unknown; wg, weeks of gestation; wk, week(s); y, year(s); +, present;…”

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

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CHARGE syndrome: a review of the immunological aspects

et al. 2015

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CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion syndrome. Immunological abnormalities have been described, but are generally given little attention in studies on CHARGE syndrome. However, structured information on immunological abnormalities in CHARGE patients is necessary to develop optimal guidelines for diagnosis, treatment and follow-up in these patients. Here, we provide an overview of the current literature on immunological abnormalities in CHARGE syndrome. We also explore immunological abnormalities in comparable multiple congenital anomaly syndromes to identify common immunological phenotypes and genetic pathways that might regulate the immune system. Finally, we aim to identify gaps in our knowledge on the immunological aspects in CHARGE syndrome that need further study.

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Section: Immunological Abnormalities Reported In Charge Syndromecontrasting

confidence: 97%

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

CHARGE syndrome: a review of the immunological aspects

et al. 2015

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“…34,35 A close connection between T-cell and B-cell pathology exists (eg, in 22q11 syndrome and WAS) in which, in addition to T-cell dysfunction, there is also an altered B-cell differentiation/maturation pattern with predisposition to humoral autoimmunity. 36,37 Conversely, PIDs with humoral autoimmune mechanisms that have historically been considered the principal cytopenia-linked PIDs, such as ALPS or CVID, have been shown to have impaired T-cell maturation 38 or reduced Treg function, [39][40][41] respectively. Many hematologic conditions such as refractory cytopenia of childhood (RCC), myelodysplastic syndrome (MDS), severe aplastic anemia (SAA), chronic immune thrombocytopenia (cITP), Evans syndrome (ES), and/or rheumatologic diseases such as systemic lupus erythematosus (SLE) (shown in square brackets in Figure 1) are either the result of an unrecognized PID or are based on a variety of polygenetic or epigenetic defects in hematopoietic stem cells or within the immune system that in turn lead to autoimmune reactions.…”

Section: Autoimmune-mediated Cytopenia In Pidmentioning

confidence: 99%

Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment

Seidel

2014

Blood

128

140

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Autoimmunity and immune dysregulation may lead to cytopenia and represent key features of many primary immunodeficiencies (PIDs). Especially when cytopenia is the initial symptom of a PID, the order and depth of diagnostic steps have to be performed in accordance with both an immunologic and a hematologic approach and will help exclude disorders such as systemic lupus erythematosus, common variable immunodeficiency, and autoimmune lymphoproliferative syndromes, hemophagocytic disorders, lymphoproliferative diseases, and novel differential diagnoses such as MonoMac syndrome (GATA2 deficiency), CD27 deficiency, lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency, activated PI3KD syndrome (APDS), X-linked immunodeficiency with magnesium defect (MAGT1 deficiency), and others. Immunosuppressive treatment often needs to be initiated urgently, which impedes further relevant immunologic laboratory analyses aimed at defining the underlying PID. Awareness of potentially involved disease spectra ranging from hematologic to rheumatologic and immunologic disorders is crucial for identifying a certain proportion of PID phenotypes and genotypes among descriptive diagnoses such as autoimmune hemolytic anemia, chronic immune thrombocytopenia, Evans syndrome, severe aplastic anemia/refractory cytopenia, and others. A synopsis of pathomechanisms, novel differential diagnoses, and advances in treatment options for cytopenias in PID is provided to facilitate multidisciplinary management and to bridge different approaches.

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“…Antibody deficiencies, including isolated low IgM, IgG, and IgA are also reported in 22q11.2 deletion syndrome. The prevalence of such defects was up to 50% in one study (Gennery, 2012); however, in a larger cohort of 855 patients, Patel et al (2012) found that only 6% of patients had hypogammaglobulinemia. Additionally, SAD has been reported in up to 55% of children with 22q11.2 deletion (Gennery et al, 2002) but Hsu et al (2016) found that no child with CHARGE had SAD.…”

Section: Isolated Antibody Deficiencymentioning

confidence: 90%

Immunodeficiency in CHARGE syndrome

Mehr

Hsu

Campbell

2017

American J of Med Genetics Pt C

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Immunodeficiency can occur in CHARGE syndrome, with immunophenotypes including reduction in T‐cell counts, combined T‐B cell defects rarely requiring antibiotic prophylaxis or immunoglobulin replacement, and severe combined immunodeficiency, which is fatal without immune reconstitution. However, the prevalence of immunodeficiency in CHARGE syndrome remains unclear with few prospective studies. In this review, we examine the existing literature covering immunodeficiency associated with CHARGE syndrome, compare these with immunodeficiencies reported in 22q11.2 deletion syndrome (a condition that shares many phenotypic characteristics with CHARGE syndrome) and suggest future research priorities.

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Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome

Cited by 67 publications

References 11 publications

CHARGE syndrome: a review of the immunological aspects

CHARGE syndrome: a review of the immunological aspects

Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment

Immunodeficiency in CHARGE syndrome

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