Neutropenia in the newborn

Maheshwari, Akhil

doi:10.1097/moh.000000000000001

Cited by 6 publications

(7 citation statements)

References 64 publications

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“…In typical and representative bone marrow aspirates, promyelocytes are abundantly present and the cellularity is rather normal or increased than reduced. Administration of GCSF to RD patients typically fails to increase peripheral blood neutrophil counts in contrast to other congenital neutropenias (Maheshwari, ).…”

Section: Clinical Presentationmentioning

confidence: 99%

Recent advances in understanding the pathogenesis and management of reticular dysgenesis

et al. 2017

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Reticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immunodeficiency (SCID) with agranulocytosis and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 (AK2) were identified to cause this phenotype. In this review, we will demonstrate important clinical differences between reticular dysgenesis and other SCID entities and summarize recent concepts in the understanding of the pathophysiology of the disease and the management strategies for this difficult condition.

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Section: Clinical Presentationmentioning

confidence: 99%

Recent advances in understanding the pathogenesis and management of reticular dysgenesis

et al. 2017

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“…2 Organic acidurias, congenital cytomegalovirus and rubella infections can also cause impaired neutrophil production due to infection of neutrophil precursors. 3 Often these infections will also cause derangements in other cell lines leading to thrombocytopenia and anemia.…”

Section: Discussionmentioning

confidence: 99%

A One-Day-Old Girl With Neutropenia

Kleiboer

Gass

2016

Clin Pediatr (Phila)

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“…7,8 Modes of inheritance include autosomal dominant, autosomal recessive, X-linked, and sporadic. 9 Most cases of SCN are either autosomal dominant or sporadic in nature, with 50% to 60% of cases ascribed to mutations in ELANE.…”

Section: Discussionmentioning

confidence: 99%

Recurrence of Neonatal Lupus Post-Cord Blood Transplant for Severe Congenital Neutropenia

2015

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Neonatal lupus erythematosus (NLE) is a rare autoimmune disorder associated with transplacental migration of maternal autoantibodies against SS-A (Ro) or SS-B (La) antigens that results in cardiac, hepatic, cutaneous, and hematologic manifestations. Although NLE-associated neutropenia is considered transient and benign, neutropenia caused by severe congenital neutropenia (SCN) is life-threatening. Diagnosing a complicated picture of neonatal neutropenia can be challenging because there are many overlapping features between the acquired and inherited etiologies. This article highlights this diagnostic challenge with a case of delayed diagnosis of SCN due to an initial diagnosis of concurrent NLE. Secondary to SCN refractory to granulocyte colony-stimulating factor, our patient underwent a matched sibling cord blood transplant. Posttransplant, the patient developed recurrence of NLE symptoms, representing the first case of maternally transferred autoantibodies causing symptoms in a cord blood recipient. This novel finding prompted a review of the standards for collecting, processing, and storing of cord blood donations. This article also discusses the importance of physician familiarity with the differences and similarities between publicly and privately banked cord blood donations to adequately counsel expectant parents.

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Neutropenia in the newborn

Cited by 6 publications

References 64 publications

Recent advances in understanding the pathogenesis and management of reticular dysgenesis

Recent advances in understanding the pathogenesis and management of reticular dysgenesis

A One-Day-Old Girl With Neutropenia

Recurrence of Neonatal Lupus Post-Cord Blood Transplant for Severe Congenital Neutropenia

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