Granulomatous Dermatitis Associated With Rubella Virus Infection in an Adult With Immunodeficiency.
Sign Up to like & getrecommendations! Published in 2021 at "JAMA dermatology"
DOI: 10.1001/jamadermatol.2021.1577
Abstract: Importance Immunodeficiency-related, vaccine-derived rubella virus (RuV) as an antigenic trigger of cutaneous and visceral granulomas is a rare, recently described phenomenon in children and young adults treated with immunosuppressant agents. Objective To perform a comprehensive… read more here.
Keywords: granulomatous dermatitis; rubella virus; ruv; immunodeficiency ... See more keywords
[Recurrent infections of the upper aerodigestive tract in patients with primary immunodeficiency].
Sign Up to like & getrecommendations! Published in 2019 at "HNO"
DOI: 10.1007/s00106-019-0683-x
Abstract: BACKGROUND Primary immunodeficiency is a rare disease of humoral and cellular immune defense, which can lead to severe and recurrent infections of different organs. The diagnosis of this disease is often difficult, and its early identification… read more here.
Keywords: immunodeficiency; recurrent infections; ent infections; infections upper ... See more keywords
Lymphopenia at diagnosis predicts survival of patients with immunodeficiency-associated lymphoproliferative disorders
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Hematology"
DOI: 10.1007/s00277-020-04084-5
Abstract: The number of patients who are administered immunosuppressive agents has been increasing. Accordingly, more patients face higher risks for developing immunodeficiency-associated lymphoproliferative disorders (LPD). Although immunodeficiency-associated LPD are distinct from other lymphoid neoplasms in terms… read more here.
Keywords: immunodeficiency; immunodeficiency associated; lymphoproliferative disorders; lymphopenia diagnosis ... See more keywords
Microsporidial myositis in adult-onset immunodeficiency: case-based review
Sign Up to like & getrecommendations! Published in 2019 at "Rheumatology International"
DOI: 10.1007/s00296-019-04439-w
Abstract: Polymyositis is a diagnosis of exclusion. In patients with odd features, it can be of infective etiology. A high index of suspicion is required for diagnosis. A 55-year-old gentleman presented with gradual-onset proximal muscle weakness.… read more here.
Keywords: microsporidial myositis; immunodeficiency; myositis adult; adult onset ... See more keywords
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-017-0417-3
Abstract: PurposeAnhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA) genes. A heterozygous NEMO mutation causes incontinentia pigmenti (IP) in females, while a hemizygous… read more here.
Keywords: female patients; immunodeficiency; incontinentia pigmenti; nemo mutation ... See more keywords
Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-017-0427-1
Abstract: TTC7A deficiency typically causes severe gastrointestinal manifestations such as multiple intestinal atresia or early-onset inflammatory bowel disease. In some cases, this is associated with severe combined immunodeficiency. Partial loss-of-function mutations appear to be associated with… read more here.
Keywords: phenotype; immunodeficiency; variable immunodeficiency; common variable ... See more keywords
Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-017-0431-5
Abstract: Mutations in Sp110 are the underlying cause of veno-occlusive disease with immunodeficiency (VODI), a combined immunodeficiency that is difficult to treat and often fatal. Because early treatment is critically important for patients with VODI, broadly… read more here.
Keywords: immunodeficiency; disease; disease immunodeficiency; veno occlusive ... See more keywords
Combined Immunodeficiency with Ring Chromosome 21
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DOI: 10.1007/s10875-018-0493-z
Abstract: To the Editor, Ring chromosome 21 or mosaic monosomy 21 is a rare complex chromosomal deletion syndrome. Patients present with dysmorphism, neurological sequelae including microcephaly, hypertonia, and seizures, thrombocytopenia, and intellectual impairment. There is also… read more here.
Keywords: immunodeficiency; ring chromosome; immunodeficiency ring; ref ... See more keywords
Treatment Satisfaction with Subcutaneous Immunoglobulin Replacement Therapy in Patients with Primary Immunodeficiency: a Pooled Analysis of Six Hizentra® Studies
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0562-3
Abstract: PurposePrimary immunodeficiency diseases (PIDDs) are a heterogenous group of disorders characterized by intrinsic impairment in the immune system. Most patients with PIDD require life-long immunoglobulin G replacement therapy, which has been shown to reduce the… read more here.
Keywords: replacement therapy; immunodeficiency; immunoglobulin replacement; treatment ... See more keywords
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0581-0
Abstract: The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported in patients with primary immunodeficiency disorders (PIDs). The majority of these PID patients with rubella-positive granulomas had DNA… read more here.
Keywords: immunodeficiency; dna repair; rubella virus; repair disorders ... See more keywords
A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-019-00615-6
Abstract: To the Editor, Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) caused by gene variants that lead to a failure of functional T cell development, with or without accompanying defects… read more here.
Keywords: immunodeficiency; scid; two siblings; combined immunodeficiency ... See more keywords