The DiGeorge syndrome

Müller, Wolfgang; Peter, Hans‐Hartmut; Wilken, M; Jüppner, Harald; Kallfelz, H. C.; Krohn, H. P.; Miller, Konstantin; Rieger, Christian

doi:10.1007/bf00441974

Cited by 79 publications

(5 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hypoparathyroidism can be primary or secondary. Primary hypoparathyroidism can be isolated or associated with syndromes such as DiGeorge syndrome [26]. Additionally, activating mutations of calcium-sensing receptors may cause primary hypoparathyroidism with autosomal dominant inheritance [27].…”

Section: Etiology Of Hypocalcemia In the Newborn Period And Infancymentioning

confidence: 99%

Clinical Approach to Hypocalcemia in Newborn Period and Infancy: Who Should Be Treated?

Vurallı

2019

International Journal of Pediatrics

View full text Add to dashboard Cite

Introduction. Hypocalcemia is a common metabolic problem in newborn period and infancy. There is consensus on the treatment of the symptomatic cases while the calcium level at which the treatment will be initiated and the treatment options are still controversial in asymptomatic hypocalcemia. Methods. This review article will cover hypocalcemia with specific reference to calcium homeostasis and definition, etiology, diagnosis, and treatment of hypocalcemia in newborn and infancy period. Results. Hypocalcemia is defined as total serum calcium <8 mg/dL (2 mmol/L) or ionized calcium <4.4 mg/dL (1.1 mmol/L) for term infants or preterm infants weighing >1500 g at birth and total serum calcium <7 mg/dL (1.75 mmol/L) or ionized calcium <4 mg/dL (1 mmol/L) for very low birth weight infants weighing <1500 g. Early-onset hypocalcemia is generally asymptomatic; therefore, screening for hypocalcemia at the 24th and 48th hour after birth is warranted for infants with high risk of developing hypocalcemia. Late-onset hypocalcemia, which is generally symptomatic, develops after the first 72 h and toward the end of the first week of life. Excessive phosphate intake, hypomagnesemia, hypoparathyroidism, and vitamin D deficiency are commonest causes of late-onset hypocalcemia. Hypocalcemia should be treated according to etiology. Calcium replacement is the cornerstone of the treatment. Elementary calcium replacement of 40 to 80 mg/kg/d is recommended for asymptomatic newborns. Elementary calcium of 10 to 20 mg/kg (1–2 mL/kg/dose 10% calcium gluconate) is given as a slow intravenous infusion in the acute treatment of hypocalcemia in patients with symptoms of tetany or hypocalcemic convulsion. Conclusion. Since most infants with hypocalcemia are usually asymptomatic, serum total or ionized calcium levels must be monitored in preterm infants with a gestational age <32 weeks, small for gestational age infants, infants of diabetic mothers, and infants with severe prenatal asphyxia with a 1 min Apgar score of <4. The treatment of hypocalcemia should be initiated immediately in infants with reduced calcium levels while investigating the etiology.

show abstract

Section: Etiology Of Hypocalcemia In the Newborn Period And Infancymentioning

confidence: 99%

Clinical Approach to Hypocalcemia in Newborn Period and Infancy: Who Should Be Treated?

Vurallı

2019

International Journal of Pediatrics

View full text Add to dashboard Cite

show abstract

“…Among patients with DGS, the majority have partial DGS (pDGS), which is characterized by T cell deficiency, but not athymia [9][10][11]. Complete DGS (cDGS) refers to patients with congenital athymia; cDGS patients account for a minor proportion of all DGS patients [2,11,12]. CHARGE Syndrome (Coloboma, Heart defects, Atresia of the nasal choanae, Retardation of growth and development, Genitourinary anomalies, and Ear anomalies) has also been shown to be associated with congenital athymia [5].…”

Section: Introductionmentioning

confidence: 99%

Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment

et al. 2021

View full text Add to dashboard Cite

Congenital athymia is an ultra-rare disease characterized by the absence of a functioning thymus. It is associated with several genetic and syndromic disorders including FOXN1 deficiency, 22q11.2 deletion, CHARGE Syndrome (Coloboma, Heart defects, Atresia of the nasal choanae, Retardation of growth and development, Genitourinary anomalies, and Ear anomalies), and Complete DiGeorge Syndrome. Congenital athymia can result from defects in genes that impact thymic organ development such as FOXN1 and PAX1 or from genes that are involved in development of the entire midline region, such as TBX1 within the 22q11.2 region, CHD7, and FOXI3. Patients with congenital athymia have profound immunodeficiency, increased susceptibility to infections, and frequently, autologous graft-versus-host disease (GVHD). Athymic patients often present with absent T cells but normal numbers of B cells and Natural Killer cells (T−B+NK+), similar to a phenotype of severe combined immunodeficiency (SCID); these patients may require additional steps to confirm the diagnosis if no known genetic cause of athymia is identified. However, distinguishing athymia from SCID is crucial, as treatments differ for these conditions. Cultured thymus tissue is being investigated as a treatment for congenital athymia. Here, we review what is known about the epidemiology, underlying etiologies, clinical manifestations, and treatments for congenital athymia.

show abstract

“…This developmental irregularity may also cause various other anatomical abnormalities including heart defects, hypoparathyroidism, and craniofacial malformations [40]–[42]. In the absence of a thymus, cDGA subjects lack thymic-derived T cells and are consequently profoundly immunocompromised.…”

Section: Introductionmentioning

confidence: 99%

The Dynamics of T-Cell Receptor Repertoire Diversity Following Thymus Transplantation for DiGeorge Anomaly

et al. 2009

View full text Add to dashboard Cite

T cell populations are regulated both by signals specific to the T-cell receptor (TCR) and by signals and resources, such as cytokines and space, that act independently of TCR specificity. Although it has been demonstrated that disruption of either of these pathways has a profound effect on T-cell development, we do not yet have an understanding of the dynamical interactions of these pathways in their joint shaping of the T cell repertoire. Complete DiGeorge Anomaly is a developmental abnormality that results in the failure of the thymus to develop, absence of T cells, and profound immune deficiency. After receiving thymic tissue grafts, patients suffering from DiGeorge anomaly develop T cells derived from their own precursors but matured in the donor tissue. We followed three DiGeorge patients after thymus transplantation to utilize the remarkable opportunity these subjects provide to elucidate human T-cell developmental regulation. Our goal is the determination of the respective roles of TCR-specific vs. TCR-nonspecific regulatory signals in the growth of these emerging T-cell populations. During the course of the study, we measured peripheral blood T-cell concentrations, TCRβ V gene-segment usage and CDR3-length spectratypes over two years or more for each of the subjects. We find, through statistical analysis based on a novel stochastic population-dynamic T-cell model, that the carrying capacity corresponding to TCR-specific resources is approximately 1000-fold larger than that of TCR-nonspecific resources, implying that the size of the peripheral T-cell pool at steady state is determined almost entirely by TCR-nonspecific mechanisms. Nevertheless, the diversity of the TCR repertoire depends crucially on TCR-specific regulation. The estimated strength of this TCR-specific regulation is sufficient to ensure rapid establishment of TCR repertoire diversity in the early phase of T cell population growth, and to maintain TCR repertoire diversity in the face of substantial clonal expansion-induced perturbation from the steady state.

show abstract

The DiGeorge syndrome

Cited by 79 publications

References 29 publications

Clinical Approach to Hypocalcemia in Newborn Period and Infancy: Who Should Be Treated?

Clinical Approach to Hypocalcemia in Newborn Period and Infancy: Who Should Be Treated?

Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment

The Dynamics of T-Cell Receptor Repertoire Diversity Following Thymus Transplantation for DiGeorge Anomaly

Contact Info

Product

Resources

About