Dataset Information

Bilateral lung transplantation in a patient with humoral immune deficiency: a case report with review of the literature.

ABSTRACT: Humoral immune deficiencies have been associated with noninfectious disease complications including autoimmune cytopenias and pulmonary disease. Herein we present a patient who underwent splenectomy for autoimmune cytopenias and subsequently was diagnosed with humoral immune deficiency in the context of recurrent infections. Immunoglobulin analysis prior to initiation of intravenous immunoglobulin (IVIG) therapy was notable for low age-matched serum levels of IgA (11?mg/dL), IgG2 (14?mg/L), and IgG4 (5?mg/L) with a preserved total level of IgG. Flow cytometry was remarkable for B cell maturation arrest at the IgM+/IgD+ stage. Selective screening for known primary immune deficiency-causing genetic defects was negative. The disease course was uniquely complicated by the development of pulmonary arteriovenous malformations (AVMs), ultimately requiring bilateral lung transplantation in 2012. This is a patient with humoral immune deficiency that became apparent only after splenectomy, which argues for routine immunologic evaluation prior to vaccination and splenectomy. Lung transplantation is a rare therapeutic endpoint and to our knowledge has never before been described in a patient with humoral immune deficiency for the indication of pulmonary AVMs.

SUBMITTER: Farmer JR

PROVIDER: S-EPMC4213409 | biostudies-other | 2014

REPOSITORIES: biostudies-other

ACCESS DATA

Publications

Bilateral lung transplantation in a patient with humoral immune deficiency: a case report with review of the literature.

Farmer Jocelyn R JR Sokol Caroline L CL Bonilla Francisco A FA Murali Mandakolathur R MR Kradin Richard L RL Astor Todd L TL Walter Jolan E JE

Case reports in immunology 20141015

Humoral immune deficiencies have been associated with noninfectious disease complications including autoimmune cytopenias and pulmonary disease. Herein we present a patient who underwent splenectomy for autoimmune cytopenias and subsequently was diagnosed with humoral immune deficiency in the context of recurrent infections. Immunoglobulin analysis prior to initiation of intravenous immunoglobulin (IVIG) therapy was notable for low age-matched serum levels of IgA (11 mg/dL), IgG2 (14 mg/L), and ...[more]

PMID: 25379312

Similar Datasets

Project description:BackgroundLigneous periodontitis or destructive membranous periodontal disease is a rare condition involving gingival tissues, which is due to plasminogen deficiency and fibrin deposition. Plasminogen deficiency is an ultrarare autosomal recessive disease. The disease is characterized by gingival enlargement and periodontal tissue destruction that leads to rapid tooth loss despite treatment attempts. A defect in fibrinolysis and abnormal wound healing are the main pathogenesis of this condition. It is caused by mutations in PLG, the gene coding for plasminogen, which results in decreased levels and functional activity. Case Presentation. In this case report, clinical and histopathological findings of a 26-year-old male patient who presented with generalized membranous gingival enlargement are presented. He was the third child of consanguineous parents and had multicystic congenital hydrocephalus at birth. Besides the gingival enlargement, he also presented ligneous conjunctivitis since childhood. The intraoral examination revealed generalized periodontal breakdown. Radiographs showed alveolar bone loss present in every quadrant. All blood investigations were normal except for plasminogen deficiency. A biopsy sample was excised from affected gingiva and a series of histopathological evaluation was performed. Based on clinical and histopathological evidence, a diagnosis of destructive membranous periodontal disease or ligneous periodontitis was made. A clinical exome assay for the PLG gene was also done. It was confirmed as Type 1 plasminogen deficiency.ConclusionLigneous periodontitis has been rarely reported in India. The reasons could be because of the rarity of the disease or missed diagnosis. The need to take a proper history and perform a proper clinical examination and histopathologic evaluation has to be stressed when diagnosing and treating gingival enlargements. If a genetic condition is suspected, genetic screening is also needed. All these will help the clinician in correctly diagnosing the disease and formulating a proper treatment plan for managing the condition.

Dataset Information

Bilateral lung transplantation in a patient with humoral immune deficiency: a case report with review of the literature.

Publications

Bilateral lung transplantation in a patient with humoral immune deficiency: a case report with review of the literature.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets