Publications by authors named "Selma Scheffler-Mendoza"

17 Publications

  • Page 1 of 1

Perineal Erythema in Kawasaki Disease and MIS-C.

Indian J Pediatr 2021 Mar 13. Epub 2021 Mar 13.

Clinical Immunology Department, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Insurgentes Cuicuilco, Coyoacán, 04530, Mexico City, CP, Mexico.

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http://dx.doi.org/10.1007/s12098-021-03717-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7954681PMC
March 2021

Diagnostic and therapeutic caveats in Griscelli syndrome.

Scand J Immunol 2021 Mar 3:e13034. Epub 2021 Mar 3.

Dermatology Department, Instituto Nacional de Pediatria, Mexico City, Mexico.

Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying genetic defect and clinical features. We present the case of a girl born from consanguineous parents who presented with predominant neurologic symptoms, silvery hair and granulomatous skin lesions. Cerebral magnetic resonance revealed diffuse white matter lesions, and central nervous system (CNS) lymphocytic infiltration was suspected. The patient underwent haematopoietic stem cell transplantation with graft failure and autologous reconstitution. She developed elevated liver enzyme with a cholestatic pattern. Multiple liver biopsies revealed centrilobular cholestasis and unspecific portal inflammation that improved with immunomodulatory treatment. She was revealed to have an impaired cytotoxicity in NK cells and a decreased expression of RAB27A. However, no variants were found in the gene. All types of GS present with pigment dilution and irregular pigment clumps that can be seen through light microscopy in hair and skin biopsy. Dermic granulomas and immunodeficiency with infectious and HLH predisposition have been described in GS type 2 (GS2). Neurologic alterations might be seen in GS type 1 (GS1) and GS type 2 (GS2), due to different mechanisms. GS1 presents with neurologic impairment secondary to myosin Va role in neuronal development and synapsis. Meanwhile, GS2 can present with neurologic impairment secondary to SNC HLH. Clinical features and cytotoxicity might aid in differentiating GS1 and GS2, especially since treatment differs.
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http://dx.doi.org/10.1111/sji.13034DOI Listing
March 2021

Kawasaki disease mimickers.

Pediatr Int 2020 Nov 29. Epub 2020 Nov 29.

Clinical Immunology Department, Instituto Nacional de Pediatría, Mexico City.

Background: Kawasaki disease (KD) is an acute systemic vasculitis that predominantly affects patients younger than five years. In the absence of an available affordable diagnostic test, detailed clinical history and physical examination are still fundamental to make a diagnosis.

Methods: We present five representative cases with KD-like presentation; Systemic onset juvenile idiopathic arthritis, Mycoplasma-induced rash and mucositis, Staphylococcal scalded skin syndrome, BCGosis and the recently described Multisystemic inflammatory syndrome in children (MIS-C) associated with SARS-CoV2.

Results: Rash, fever and laboratory markers of inflammation can be present in several childhood diseases that may mimic KD.

Conclusion: The term Kawasaki syndrome instead of Kawasaki disease may be more appropriate. Physicians should consider alternate diagnosis that may mimic KD, particularly consider MIS-C during the present pandemic since an aggressive diagnostic and therapeutic approach is needed.
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http://dx.doi.org/10.1111/ped.14561DOI Listing
November 2020

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.

J Allergy Clin Immunol 2021 Feb 24;147(2):520-531. Epub 2020 Sep 24.

Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, UNSW Sydney, Darlinghurst, Australia. Electronic address:

Background: There is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense.

Objective: We sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2.

Methods: An invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI.

Results: We gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died.

Conclusions: This study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2.
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http://dx.doi.org/10.1016/j.jaci.2020.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7832563PMC
February 2021

Use of Infliximab in the Treatment of Macrophage Activation Syndrome Complicating Kawasaki Disease.

J Pediatr Hematol Oncol 2021 Apr;43(3):e448-e451

Pediatric Department, Medica Sur Hospital.

Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology. KD can be complicated with macrophage activation syndrome. The optimal treatment for this KD complication has not been established, and a variety of treatments have been used. Infliximab, a chimeric monoclonal antibody that binds tumor necrosis factor, has proved to be efficacious in IV gammaglobulin resistant KD. We present 2 cases of KD complicated with macrophage activation syndrome, including 1 patient with DiGeorge syndrome successfully treated with a combined treatment of IV gammaglobulin, corticosteroids, cyclosporine, and infliximab.
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http://dx.doi.org/10.1097/MPH.0000000000001756DOI Listing
April 2021

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.

J Clin Immunol 2020 04 10;40(3):475-493. Epub 2020 Feb 10.

Imagine Institute, Paris University, Paris, France.

Purpose: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD diagnosed in Mexico from 2011 to 2019.

Methods: Thirteen Mexican hospitals participated in this study. We describe the genetic, immunological, and clinical features of the 93 CGD patients from 78 unrelated kindreds.

Results: Eighty-two of the patients (88%) were male. All patients developed bacterial infections and 30% suffered from some kind of fungal infection. Fifty-four BCG-vaccinated patients (58%) presented infectious complications of BCG vaccine. Tuberculosis occurred in 29%. Granulomas were found in 56% of the patients. Autoimmune and inflammatory diseases were present in 15% of patients. A biological diagnosis of CGD was made in 89/93 patients, on the basis of NBT assay (n = 6), DHR (n = 27), and NBT plus DHR (n = 56). The deficiency was complete in all patients. The median age of biological diagnosis was 17 months (range, 0-186 months). A genetic diagnosis was made in 83/93 patients (when material was available), corresponding to CYBB (n = 64), NCF1 (n = 7), NCF2 (n = 7), and CYBA (n = 5) mutations.

Conclusions: The clinical manifestations in these Mexican CGD patients were similar to those in patients elsewhere. This cohort is the largest in Latin America. Mycobacterial infections are an important cause of morbidity in Mexico, as in other countries in which tuberculosis is endemic and infants are vaccinated with BCG. X-linked CGD accounted for most of the cases in Mexico, as in other Latin American countries. However, a significant number of CYBA and NCF2 mutations were identified, expanding the spectrum of known causal mutations.
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http://dx.doi.org/10.1007/s10875-020-00750-5DOI Listing
April 2020

Acute Abdomen in Kawasaki Disease.

Indian J Pediatr 2019 12 7;86(12):1151-1152. Epub 2019 Aug 7.

Department of Clinical Immunology, Instituto Nacional de Pediatría, Insurgentes Cuicuilco, 04530, Mexico City, Mexico.

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http://dx.doi.org/10.1007/s12098-019-03048-6DOI Listing
December 2019

[Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients].

Rev Alerg Mex 2018 Jan-Mar;65(1):108-116

Secretaría de Salud, Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México.

Background: Osteopetrosis is a heterogeneous group of diseases that are characterized by increased bone density due to abnormalities in osteoclast differentiation or function, which result in a lack of bone resorption.

Case Reports: Two patients with osteopetrosis onset since the first months of life, with facial dysmorphia, blindness, deafness, hepatosplenomegaly, hypotonia, neurodevelopmental retardation and bicytopenia. Bone radiographs showed osteosclerosis. They were assessed by different specialists prior to definitive diagnosis. Genetic analysis determined mutations in the TCIRG1 gene. Patient 1 had a homozygous mutation for p.Ile720Alafs*14 identified, which hasn't been previously reported. Patient 2 had a compound heterozygous mutation: the first one, p.Phe459Leufs*79, and the second one, p.Gly159Argfs*68, none of which has been previously reported as far as we know.

Conclusion: The only therapeutic option for patients with osteopetrosis is hematopoietic stem cell transplantation (HSCT), which should be carried out in the course of the first 3 months of life, before neurological damage occurs. Although osteopetrosis diagnosis is relatively simple, it is delayed owing to the lack of clinical suspicion.
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http://dx.doi.org/10.29262/ram.v65i1.314DOI Listing
October 2019

Fragments of immunological memory: An interview with Dr. Berrón.

Rev Alerg Mex 2017 Oct-Dec;64(4):509-512

Hospital Ángeles Pedregal, Ciudad de México, México.

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http://dx.doi.org/10.29262/ram.v64i4.295DOI Listing
July 2019

[Disseminated infection by M. tuberculosis complex in patient with IFN-γ receptor 1 complete deficiency].

Rev Alerg Mex 2017 Oct-Dec;64(4):499-504

Secretaría de Salud, Instituto Nacional de Pediatría, Servicio de Inmunología. Ciudad de México, México.

Background: Several mutations have been described leading to impaired immunity in the IL-12/IFN-γ axis and, they confer susceptibility to mycobacterial infections. One of the more serious clinical phenotypes is secondary to mutations at IFN-γ receptor 1 gene, characterized by an early onset and more severe disease.

Clinical Report: We present a 3-month-old female patient with systemic M. tuberculosis complex who has a homozygous mutation, it affects the splicing site at IFNGR1 c.201-1G> T. At time of this report, she is with antimycobacterial treatment in the protocol of pluripotent hematopoietic cell transplantation (TCHP).

Conclusion: It has been reported that antiphimic treatment should be maintained until the immune system is restored by the TCHP. If patients receive THCP before the age of 1 year old, they have a better prognosis. Diminish the levels of IFN-γ in plasma before the procedure is associated to better results.
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http://dx.doi.org/10.29262/ram.v64i4.329DOI Listing
July 2019

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.

Expert Rev Clin Immunol 2018 01 11;14(1):83-93. Epub 2017 Dec 11.

a Unidad de Investigación en Inmunodeficiencias , Instituto Nacional de Pediatría, SSA , Ciudad de México , Mexico.

Background: X-linked agammaglobulinemia (XLA) is characterized by the absence of immunoglobulin and B cells. Patients suffer from recurrent bacterial infections from early childhood, and require lifelong immunoglobulin replacement therapy. Mutations in BTK (Bruton's Tyrosine Kinase) are associated with this phenotype. Some patients that present XLA do not show typical clinical symptoms, resulting in delayed diagnosis due to the lack of a severe phenotype. This study presents a report of five XLA patients from four different families and attempts to determine a relationship between delayed diagnosis and the occurrence of BTK mutations.

Methods: Samples from patients with antibody deficiency were analyzed to determine BTK expression, immunophenotyping and mutation analysis. Clinical and laboratory data was analyzed and presented for each patient.

Results: Most patients presented here showed atypical clinical and laboratory data for XLA, including normal IgM, IgG, or IgA levels. Most patients expressed detectable BTK protein. Sequencing of BTK showed that these patients harbored missense mutations in the pleckstrin homology and Src-homology-2 domains. When it was compared to public databases, BTK sequencing exhibited a new change, along with three other previously reported changes.

Conclusions: Delayed diagnosis and atypical manifestations in XLA might be related to mutation type and BTK expression.
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http://dx.doi.org/10.1080/1744666X.2018.1413349DOI Listing
January 2018

Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1).

Immunol Res 2015 Mar;61(3):260-8

Departamento de Inmunología Clínica, Instituto Nacional de Pediatría, CP 04530, Mexico City, Mexico.

Two patients with a severe leukocyte adhesion deficiency type 1 (LAD-1) phenotype were analyzed by flow cytometry and functional assays to demonstrate the improper adhesive and phagocytic responses of their leukocytes. A single homozygous defect that involves a missense mutation (c.817G>A) that encodes for a G273R substitution in CD18 was identified in both patients. The adhesion and phagocytosis assays demonstrated the inability of patients' leukocytes to perform these functions. Expression of the LFA-1 (CD11a/CD18) on the co-transfected HEK 293 cells with the mutated form of CD18 was not detected. Finally, both patients have been treated with immunoglobulin as an adjunctive therapy with positive results. We propose that intravenous immunoglobulin treatment is safe and efficacious in LAD-1 patients before hematopoietic stem cell transplantation and helpful in controlling severe infections. Subcutaneous immunoglobulin appeared to help wound healing in refractory ulcers in these patients.
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http://dx.doi.org/10.1007/s12026-014-8619-8DOI Listing
March 2015