Disseminated abscesses due to Mycoplasma faucium in a patient with activated PI3Kδ syndrome type 2

Domínguez‐Pinilla, Nerea; Allende, Luís M.; Rosain, Jérémie; Gallego, Maria del Carmen; Cháves, Fernando; Deswarte, Caroline; Viedma, Esther; Arocena, Jaime de Inocencio; Ruiz–Contreras, Jesús; Bustamante, Jacinta; González-Granado, Luis Ignacio

doi:10.1016/j.jaip.2018.02.014

Cited by 10 publications

(5 citation statements)

References 10 publications

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“…Chronic EBV viremia was seen in all patients in a series of 9 with APDS ( 105 ). Other infections are summarized in Table 2 ( 45 , 104 , 106 , 107 ).…”

Section: Introductionmentioning

confidence: 99%

Update on Infections in Primary Antibody Deficiencies

Demirdağ

Gupta

2021

Front. Immunol.

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Bacterial respiratory tract infections are the hallmark of primary antibody deficiencies (PADs). Because they are also among the most common infections in healthy individuals, PADs are usually overlooked in these patients. Careful evaluation of the history, including frequency, chronicity, and presence of other infections, would help suspect PADs. This review will focus on infections in relatively common PADs, discussing diagnostic challenges, and some management strategies to prevent infections.

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“…Chronic EBV viremia was seen in all patients in a series of 9 with APDS ( 105 ). Other infections are summarized in Table 2 ( 45 , 104 , 106 , 107 ).…”

Section: Introductionmentioning

confidence: 99%

Update on Infections in Primary Antibody Deficiencies

Demirdağ

Gupta

2021

Front. Immunol.

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“…2 A). More than two-thirds (75%) of the variants had been previously reported; in some cases, they were described by our group for the first time [ 19 , 22 – 25 , 31 – 33 , 38 , 45 , 52 ] (Fig. 2 B).…”

Section: Resultsmentioning

confidence: 77%

“…Eleven patients (25%) with autoimmune lymphoproliferative syndrome (ALPS) due to germline and somatic FAS gene variants along with a germline FASL gene variant were the most common pathogenic finding [ 19 – 22 ]. We also detected four patients with germline variants in GATA2 gene (9.1%) and susceptibility to mycobacteria, myelodysplastic syndrome, acute myelogenous leukemia, chronic myelomonocytic leukemia, and/or lymphedema [ 23 ]; three patients (6.8%) with variants in CTLA4 gene and immune dysregulation; three patients (6.8%) with variants in TET2 gene and ALPS-like phenotype, one of these patients with the biallelic form and two with the monoallelic form of the disease [ 24 ]; two related patients (4.5%) with a congenital neutropenia due to an ELANE genetic defect; two unrelated patients with NFKB1 deficiency (4.5%) and common variable immunodeficiency (CVID) phenotype; two brothers (4.5%) were compound heterozygous for variants in PGM3 gene with very high IgE levels, immunodeficiency, and severe atopy; two unrelated patients (4.5%) with the autosomal dominant (AD) form of activated phosphoinositide 3-kinase syndrome type 2 (APDS2) [ 25 ] characterized by severe bacterial infections, reduced memory B cells, and increased transitional B cells, lymphadenopathy/splenomegaly and lymphoproliferation/lymphoma; two brothers with a Griscelli syndrome type 2 due to a RAB27A molecular defect (4.5%) with neurological symptoms without albinism and decreased NK cytotoxicity and degranulation; two unrelated patients with Job syndrome and hyper IgE due to STAT3 AD loss of function (LOF) variants (4.5%); two unrelated patients (4.5%) with a Di George syndrome due to del22q11.2 and immune dysregulation. Finally, single patients were also diagnosed with ADA2, BTK, C8B, CD8A, LIG4, MAGT1, TACI, TAP1, and TLR7 deficiencies.…”

Section: Resultsmentioning

confidence: 99%

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity

Segura-Tudela,

López-Nevado,

Nieto-López

et al. 2024

J Clin Immunol

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Human inborn errors of immunity (IEI) comprise a group of diseases resulting from molecular variants that compromise innate and adaptive immunity. Clinical features of IEI patients are dominated by susceptibility to a spectrum of infectious diseases, as well as autoimmune, autoinflammatory, allergic, and malignant phenotypes that usually appear in childhood, which is when the diagnosis is typically made. However, some IEI patients are identified in adulthood due to symptomatic delay of the disease or other reasons that prevent the request for a molecular study. The application of next-generation sequencing (NGS) as a diagnostic technique has given rise to an ever-increasing identification of IEI-monogenic causes, thus improving the diagnostic yield and facilitating the possibility of personalized treatment. This work was a retrospective study of 173 adults with IEI suspicion that were sequenced between 2005 and 2023. Sanger, targeted gene-panel, and whole exome sequencing were used for molecular diagnosis. Disease-causing variants were identified in 44 of 173 (25.43%) patients. The clinical phenotype of these 44 patients was mostly related to infection susceptibility (63.64%). An enrichment of immune dysregulation diseases was found when cohorts with molecular diagnosis were compared to those without. Immune dysregulation disorders, group 4 from the International Union of Immunological Societies Expert Committee (IUIS), were the most prevalent among these adult patients. Immune dysregulation as a new item in the Jeffrey Model Foundation warning signs for adults significantly increases the sensitivity for the identification of patients with an IEI-producing molecular defect.

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“…Coloniza la orofaringe, siendo más común en personas con defectos sinusales o dentales. También se ha aislado en abscesos cerebrales [ 40 , 41 ], procesos de gastritis crónica [ 42 ] y en abscesos diseminados en paciente con inmunodeficiencia primaria [ 43 ]. De las especies del género Mycoplasma , sólo se han aislado M. salivarium y M. faucium en abscesos cerebrales, lo que sugiere que puedan tener un papel patógeno específico [ 44 ].…”

Section: Especies Implicadas En Patología Humanaunclassified

Clinical implications of the genus Mycoplasma

Rufo¹,

Sánchez²,

Sánchez³

et al. 2021

Rev Esp Quimioter

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Within Mycoplasma genus, M. pneumoniae, M. genitalium, M. hominis or U. urealyticum are the main species that have been traditionally linked to infectious processes. However, there are many other species involved in these conditions and that are, frequently, unfamiliar to healthcare professionals. The aim of this review is to identify all Mycoplasma genus species that have been isolated in human beings and to determine their involvement in infectious pathology.

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Disseminated abscesses due to Mycoplasma faucium in a patient with activated PI3Kδ syndrome type 2

Cited by 10 publications

References 10 publications

Update on Infections in Primary Antibody Deficiencies

Update on Infections in Primary Antibody Deficiencies

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity

Clinical implications of the genus Mycoplasma

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