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Article ; Online: IgA deficiency and autoimmune comorbidities in Juvenile Idiopathic Arthritis.

Torres-Fernandez, David / Perez-Heras, Iñigo / Fernandez-Manso, Beatriz / Galán Del Río, Pilar / Gonzalez-Granado, Luis Ignacio / de Inocencio, Jaime

Anales de pediatria

2022 Volume 97, Issue 3, Page(s) 172–178

Abstract: Objectives: (1) To describe the prevalence of IgA deficiency (IgAD), uveitis, coeliac disease (CD) and thyroid disorders in a multicentric cohort of patients diagnosed with JIA and, (2) to evaluate whether patients with JIA and IgAD present other ... ...

Abstract	Objectives: (1) To describe the prevalence of IgA deficiency (IgAD), uveitis, coeliac disease (CD) and thyroid disorders in a multicentric cohort of patients diagnosed with JIA and, (2) to evaluate whether patients with JIA and IgAD present other autoimmune diseases more frequently than patients with normal serum levels of IgA. Methods: Retrospective chart review of a cohort of patients diagnosed with JIA followed at the paediatric rheumatology units of two hospitals in Madrid, Spain. Results: A total of 193 patients were included. Of them, 123 were females (64%). Median age at disease onset was 5.6 years (IQR 2.5-9.7) and the median time of follow-up was 5.1 years (IQR 2.2-8.1). The three most common ILAR categories were oligoarticular (53%), polyarticular RF negative (20%) and enthesitis related arthritis (10%). Serum IgA levels were available in 172/193 (89%); 25/172 (15%) had selective (<7mg/dl, n=8) or partial (7-69mg/dl, n=17) IgAD. All the patients had periodic eye exams. Eighteen children (9%) had anterior uveitis, 15/18 chronic and 3/18 acute. Serum anti transglutaminase IgA, or IgG in IgAD were obtained in 135/193 (70%). Four children (3%) were diagnosed with CD either by intestinal biopsy (n=3) or by the combination of characteristic clinical, serological and genetic features (n=1); two of them had IgAD (p=0.12; OR=6.4; 95% CI 0.9-47.6). Only 1/153 (0.7%) patient had hyperthyrotropinemia with positive anti-thyroid antibodies and required replacement therapy. Conclusion: Patients with JIA frequently present autoimmune comorbidities. IgAD does not seem to increase their prevalence, with the possible exception of CD.
MeSH term(s)	Arthritis, Juvenile/diagnosis ; Arthritis, Juvenile/epidemiology ; Celiac Disease/diagnosis ; Celiac Disease/epidemiology ; Child ; Child, Preschool ; Female ; Humans ; IgA Deficiency/diagnosis ; IgA Deficiency/epidemiology ; Immunoglobulin A ; Male ; Retrospective Studies ; Transglutaminases
Chemical Substances	Immunoglobulin A ; Transglutaminases (EC 2.3.2.13)
Language	English
Publishing date	2022-04-19
Publishing country	Spain
Document type	Journal Article
ZDB-ID	2830901-7
ISSN	2341-2879 ; 2341-2879
ISSN (online)	2341-2879
ISSN	2341-2879
DOI	10.1016/j.anpede.2022.03.004
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Article ; Online: Neutropenia febril posquimioterapia. Estancia hospitalaria y experiencia en nuestro medio.

Pérez-Heras, Íñigo / Raynero-Mellado, Roberto Carlos / Díaz-Merchán, Raquel / Domínguez-Pinilla, Nerea

Anales de pediatria

2019 Volume 92, Issue 3, Page(s) 141–146

Abstract: Introduction: Infections are significant cause of morbidity and mortality in cancer patients (mortality is estimated at around 3%). Febrile neutropenia often leads to the hospitalisation of cancer patients, increasing the risk of nosocomial infection, ... ...

Title translation	Post chemoterapy febrile neutropenia. Length of stay and experience in our population.
Abstract	Introduction: Infections are significant cause of morbidity and mortality in cancer patients (mortality is estimated at around 3%). Febrile neutropenia often leads to the hospitalisation of cancer patients, increasing the risk of nosocomial infection, as well as health costs due to the hospital admission. Methods: An ambispective (01 July 2015 - 12 July 2018) observational study was conducted on all episodes of chemotherapy-induced febrile neutropenia in a paediatric population. A record was made of age, gender, weight percentile (WHO), length of hospital stay (days), temperature (oC), microbial isolation, infectious source, antibiotic or antifungal prophylaxis, haemoglobin (g/dl), platelets (/mm Results: The study included 69 patients, and 101 episodes were recorded. The mean stay was 7.43 days (median 6 days). Microbial isolation was found in 44.6% of the episodes, with no infectious source identified in 36% of them. An inverse correlation was found between haemoglobin, platelets, and lymphocytes on admission and the hospital stay (-0.356: P=.001, -0.216: P=.042, and -0.216: P=.042, respectively). The mean stay was greater if there was a CRP>90mg/L (10.94 vs. 6.66 days, P=.017), if PCT>1ng/ml (16.50 vs. 6.77 days, P=.0002), if ≤ 100 neutrophils (8.27 vs. 5.04 days P=.039) on admission, and if there was microbe isolation (9.54 vs. 5.78 days P=.006). Conclusion: The relationship between haemoglobin, platelets, and lymphocytes on admission and the mean stay is inversely proportional. In addition, those patients with ≤100 neutrophils, CRP>90mg/L, and PCT>1ng/ml on admission had a longer hospital stay.
MeSH term(s)	Antineoplastic Agents/adverse effects ; Antineoplastic Agents/therapeutic use ; Child ; Febrile Neutropenia/chemically induced ; Febrile Neutropenia/epidemiology ; Febrile Neutropenia/therapy ; Female ; Humans ; Infections/epidemiology ; Infections/microbiology ; Length of Stay ; Male ; Neoplasms/drug therapy ; Prospective Studies ; Retrospective Studies ; Risk Factors
Chemical Substances	Antineoplastic Agents
Language	Spanish
Publishing date	2019-06-22
Publishing country	Netherlands
Document type	Journal Article ; Observational Study
ZDB-ID	2830901-7
ISSN	2341-2879 ; 2341-2879
ISSN (online)	2341-2879
ISSN	2341-2879
DOI	10.1016/j.anpedi.2019.05.008
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Article ; Online: Management of persistent Cryptosporidium spp. infestation in a child with acute myeloid leukemia.

Pérez-Heras, Íñigo / García-Palomo, Marta / Herrera-López, María / González-Granado, Luis Ignacio / Domínguez-Pinilla, Nerea

Pediatric blood & cancer

2020 Volume 67, Issue 11, Page(s) e28470

MeSH term(s)	Anti-Bacterial Agents/therapeutic use ; Antineoplastic Combined Chemotherapy Protocols/adverse effects ; Antiprotozoal Agents/therapeutic use ; Azithromycin/therapeutic use ; Child ; Cryptosporidiosis/drug therapy ; Cryptosporidiosis/etiology ; Cryptosporidiosis/parasitology ; Cryptosporidium/drug effects ; Cryptosporidium/isolation & purification ; Disease Management ; Humans ; Leukemia, Myeloid, Acute/drug therapy ; Leukemia, Myeloid, Acute/pathology ; Male ; Paromomycin/therapeutic use ; Prognosis
Chemical Substances	Anti-Bacterial Agents ; Antiprotozoal Agents ; Paromomycin (61JJC8N5ZK) ; Azithromycin (83905-01-5)
Language	English
Publishing date	2020-08-09
Publishing country	United States
Document type	Case Reports ; Letter ; Research Support, N.I.H., Extramural
ZDB-ID	2131448-2
ISSN	1545-5017 ; 1545-5009
ISSN (online)	1545-5017
ISSN	1545-5009
DOI	10.1002/pbc.28470
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Article ; Online: Two Cases of SARS-CoV-2 Infection in Pediatric Oncohematologic Patients in Spain.

Pérez-Heras, Iñigo / Fernandez-Escobar, Verónica / Del Pozo-Carlavilla, María / Díaz-Merchán, Raquel / Valerio-Alonso, María Eli / Domínguez-Pinilla, Nerea

The Pediatric infectious disease journal

2020 Volume 39, Issue 11, Page(s) 1040–1042

Abstract: Since December 2019, severe acute respiratory syndrome coronavirus 2 infection has spread worldwide. We all are concerned about immunocompromised children, especially hematologic and oncologic pediatric patients. We want to share our experience with 2 ... ...

Abstract	Since December 2019, severe acute respiratory syndrome coronavirus 2 infection has spread worldwide. We all are concerned about immunocompromised children, especially hematologic and oncologic pediatric patients. We want to share our experience with 2 pediatric cancer patients with severe acute respiratory syndrome coronavirus 2 infection. Both presented mild disease and good outcome. No respiratory symptoms were identified, but both developed diarrhea, one probably secondary to lopinavir/ritonavir. Pediatric cancer patients may have milder disease than adults, but larger studies are needed to make conclusions.
MeSH term(s)	Adolescent ; Betacoronavirus/isolation & purification ; COVID-19 ; Child ; Child, Preschool ; Coronavirus Infections/diagnosis ; Coronavirus Infections/drug therapy ; Coronavirus Infections/epidemiology ; Diarrhea/etiology ; Diarrhea/virology ; Female ; Humans ; Kidney Neoplasms/epidemiology ; Kidney Neoplasms/virology ; Lopinavir/therapeutic use ; Pandemics ; Pneumonia, Viral/diagnosis ; Pneumonia, Viral/drug therapy ; Pneumonia, Viral/epidemiology ; Ritonavir/therapeutic use ; SARS-CoV-2 ; Sarcoma, Ewing/epidemiology ; Sarcoma, Ewing/virology ; Spain/epidemiology ; Wilms Tumor/epidemiology ; Wilms Tumor/virology
Chemical Substances	Lopinavir (2494G1JF75) ; Ritonavir (O3J8G9O825)
Keywords	covid19
Language	English
Publishing date	2020-07-31
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	392481-6
ISSN	1532-0987 ; 0891-3668
ISSN (online)	1532-0987
ISSN	0891-3668
DOI	10.1097/INF.0000000000002841
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Article ; Online: HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function.

Perez-Heras, Iñigo / Tsilifis, Christo / Slatter, Mary A / Brynjólfsson, Siggeir F / Haraldsson, Ásgeir / Gennery, Andrew R

Clinical immunology (Orlando, Fla.)

2021 Volume 229, Page(s) 108799

Abstract: Homozygous mutations in cytochrome b-245 chaperone 1 (CYBC1) have been recently described as causing recurrent infections and inflammatory disease in an Icelandic cohort and a patient from Saudi Arabia, by destabilising the dimerisation of ... ...

Abstract	Homozygous mutations in cytochrome b-245 chaperone 1 (CYBC1) have been recently described as causing recurrent infections and inflammatory disease in an Icelandic cohort and a patient from Saudi Arabia, by destabilising the dimerisation of gp91
MeSH term(s)	Adolescent ; Fatal Outcome ; Genetic Association Studies ; Granulomatous Disease, Chronic/genetics ; Granulomatous Disease, Chronic/immunology ; Granulomatous Disease, Chronic/therapy ; Hematopoietic Stem Cell Transplantation ; Homozygote ; Humans ; Iceland ; Male ; Membrane Proteins/genetics ; Membrane Proteins/immunology ; Mutation ; Siblings
Chemical Substances	CYBC1 protein, human ; Membrane Proteins
Language	English
Publishing date	2021-07-16
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1459903-x
ISSN	1521-7035 ; 1521-6616
ISSN (online)	1521-7035
ISSN	1521-6616
DOI	10.1016/j.clim.2021.108799
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Article ; Online: Two Cases of SARS-CoV-2 Infection in Pediatric Oncohematologic Patients in Spain

Pérez-Heras, Iñigo / Fernandez-Escobar, Verónica / Del Pozo-Carlavilla, María / Díaz-Merchán, Raquel / Valerio-Alonso, María Eli / Domínguez-Pinilla, Nerea

Pediatric Infectious Disease Journal

2020 Volume Publish Ahead of Print

Keywords	Pediatrics, Perinatology, and Child Health ; Microbiology (medical) ; Infectious Diseases ; covid19
Language	English
Publisher	Ovid Technologies (Wolters Kluwer Health)
Publishing country	us
Document type	Article ; Online
ZDB-ID	392481-6
ISSN	1532-0987 ; 0891-3668
ISSN (online)	1532-0987
ISSN	0891-3668
DOI	10.1097/inf.0000000000002841
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Article: Two Cases of SARS-CoV-2 Infection in Pediatric Oncohematologic Patients in Spain

Pérez-Heras, Iñigo / Fernandez-Escobar, Verónica / Del Pozo-Carlavilla, María / Díaz-Merchán, Raquel / Valerio-Alonso, María Eli / Domínguez-Pinilla, Nerea

Pediatr Infect Dis J

Abstract	Since December 2019, severe acute respiratory syndrome coronavirus 2 infection has spread worldwide. We all are concerned about immunocompromised children, especially hematologic and oncologic pediatric patients. We want to share our experience with 2 pediatric cancer patients with severe acute respiratory syndrome coronavirus 2 infection. Both presented mild disease and good outcome. No respiratory symptoms were identified, but both developed diarrhea, one probably secondary to lopinavir/ritonavir. Pediatric cancer patients may have milder disease than adults, but larger studies are needed to make conclusions.
Keywords	covid19
Publisher	WHO
Document type	Article
Note	WHO #Covidence: #710560
Database	COVID19

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Article: Surgical induced necrotizing scleritis following intraocular lens replacement.

de Los Mártires, Pablo González / Pérez, Gonzalo Guerrero / Bujanda, Iñigo Les / Guerra, Iñaki Elejalde / Mulero, Henar Heras / Silva, Esther Compains

Journal of ophthalmic inflammation and infection

2023 Volume 13, Issue 1, Page(s) 53

Abstract: Purpose: To report a surgical-induced necrotizing scleritis, as well as its medical and surgical management.: Methods: Case-report.: Results: An 88 year-old patient with a three-day severe single-left-eye ocular pain. One-time surgery involving ... ...

Abstract	Purpose: To report a surgical-induced necrotizing scleritis, as well as its medical and surgical management. Methods: Case-report. Results: An 88 year-old patient with a three-day severe single-left-eye ocular pain. One-time surgery involving PPV with removal of dislocated intraocular lens and secondary implantation of iris-claw Artisan® lens was performed 6 months earlier. Visual acuity of 20/100. Slit-lamp examination revealed a 5 × 2 mm non-suppurative superior scleral defect. Empirical topical antibiotic treatment with dexamethasone, as well as oral doxycycline was started. Infectious and autoimmune diseases were ruled out. Non-infectious scleritis treatment was conducted with intravenous Methylprednisolone 3 day pulses, followed by weekly tapered Prednisone and intramuscular Methotrexate. However, 1 month after the diagnosis, the defect was worsened; hence, a heterologous scleral patch graft was performed and, days after the intervention, Adalimumab was initiated. To date, 6 months later, remains with proper scleral patch, a diary low-dose Prednisone, and spacing Adalimumab treatment. Conclusion: Surgery-induced necrotizing scleritis is a severe condition that compromise the ocular and visual integrity. Proper diagnosis, as well as early treatment is required to achieve remission, prevent relapses, and avoid structural complications. In refractory cases, anti-TNF-α immunotherapy associated with surgical tectonic graft interventions can achieve promising results.
Language	English
Publishing date	2023-12-07
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2592309-2
ISSN	1869-5760
ISSN	1869-5760
DOI	10.1186/s12348-023-00373-y
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Article ; Online: T-replete HLA-matched grafts vs T-depleted HLA-mismatched grafts in inborn errors of immunity.

Blood advances

2021 Volume 6, Issue 4, Page(s) 1319–1328

Abstract: Hematopoietic cell transplantation (HCT) has become standard-of-care for an increasing number of inborn errors of immunity (IEI). This report is the first to compare transplant outcomes according to T-cell-replete (ie, T-replete) HLA-matched grafts using ...

Abstract	Hematopoietic cell transplantation (HCT) has become standard-of-care for an increasing number of inborn errors of immunity (IEI). This report is the first to compare transplant outcomes according to T-cell-replete (ie, T-replete) HLA-matched grafts using alemtuzumab (n = 117) and T-cell-depleted (ie, T-depleted) HLA-mismatched grafts using T-cell receptor-αβ (TCRαβ)/CD19 depletion (n = 47) in children with IEI who underwent first HCT between 2014 and 2019. All patients received treosulfan-based conditioning except patients with DNA repair disorders. For T-replete grafts, the stem cell source was marrow in 25 (21%) patients, peripheral blood stem cell (PBSC) in 85 (73%), and cord blood in 7 (6%). TCRαβ/CD19 depletion was performed on PBSCs from 45 haploidentical parental donors and 2 mismatched unrelated donors. The 3-year overall survival (OS) and event-free survival for the entire cohort were 85% (77%-90%) and 79% (69%-86%), respectively. Analysis according to age at transplant revealed a comparable 3-year OS between T-replete grafts (88%; 76%-94%) and T-depleted grafts (87%; 64%-96%) in younger patients (aged <5 years at HCT). For older patients (aged >5 years), the OS was significantly lower in T-depleted grafts (55%; 23%-78%) compared with T-replete grafts (87%; 68%-95%) (P = .03). Grade III to IV acute graft-versus-host disease was observed in 8% of T-replete marrow, 7% of T-replete PBSC, 14% of T-replete cord blood, and 2% of T-depleted PBSC (P = .73). Higher incidence of viremia (P < .001) and delayed CD3 reconstitution (P = .003) were observed after T-depleted graft HCT. These data indicate that mismatched donor transplant after TCRαβ/CD19 depletion represents an excellent alternative for younger children with IEI in need of an allograft.
MeSH term(s)	Antigens, CD19 ; Child ; Graft vs Host Disease/etiology ; Hematopoietic Stem Cell Transplantation/adverse effects ; Humans ; Receptors, Antigen, T-Cell, alpha-beta ; Transplantation, Homologous/adverse effects ; Unrelated Donors
Chemical Substances	Antigens, CD19 ; Receptors, Antigen, T-Cell, alpha-beta
Language	English
Publishing date	2021-12-30
Publishing country	United States
Document type	Journal Article
ZDB-ID	2915908-8
ISSN	2473-9537 ; 2473-9529
ISSN (online)	2473-9537
ISSN	2473-9529
DOI	10.1182/bloodadvances.2020004072
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Article ; Online: Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency.

Journal of clinical immunology

2020 Volume 41, Issue 1, Page(s) 171–184

Abstract: Purpose: Knowledge of post-hematopoietic cell transplantation (HCT) non-hematological autoimmune disease (AD) is far from satisfactory.: Method: This multicenter retrospective study focuses on incidence, risk factors, and outcomes of post-HCT AD in ... ...

Abstract	Purpose: Knowledge of post-hematopoietic cell transplantation (HCT) non-hematological autoimmune disease (AD) is far from satisfactory. Method: This multicenter retrospective study focuses on incidence, risk factors, and outcomes of post-HCT AD in 596 children with primary immunodeficiency (PID) who were transplanted from 2009 to 2018. Results: The indications of HCT were severe combined immunodeficiency (SCID, n = 158, 27%) and non-SCID PID (n = 438, 73%). The median age at HCT was 2.3 years (range, 0.04 to 18.3 years). The 5-year overall survival for the entire cohort was 79% (95% cumulative incidence (CIN), 74-83%). The median follow-up of surviving patients was 4.3 years (0.08 to 14.7 years). The CIN of post-HCT AD was 3% (2-5%) at 1 year post-HCT, 7% (5-11%) at 5 years post-HCT, and 11% (7-17%) at 8 years post-HCT. The median onset of post-HCT AD was 2.2 years (0.12 to 9.6 years). Autoimmune thyroid disorder (n = 19, 62%) was the most common post-HCT AD, followed by neuromuscular disorders (n = 7, 22%) and rheumatological manifestations (n = 5, 16%). All patients but one required treatment for post-HCT AD. After multivariate analysis, age at transplant (p = 0.01) and T cell-depleted graft (p < 0.001) were significant predictors of post-HCT AD. None of the T cell-depleted graft recipients developed post-HCT AD. Patients with a lower CD3+ count at 6 months post-HCT had a significant higher incidence of post-HCT AD compared to disease controls. Graft-versus-host disease, viral infection, and donor chimerism had no association with post-HCT AD. Conclusion: Post-HCT AD occurred in 11% at 8 years post-HCT and its occurrence was associated with older age at HCT and unmanipulated graft.
MeSH term(s)	Adolescent ; Autoimmune Diseases/diagnosis ; Autoimmune Diseases/epidemiology ; Autoimmune Diseases/etiology ; Autoimmunity ; Child ; Child, Preschool ; Disease Management ; Disease Susceptibility ; Female ; Graft vs Host Disease/diagnosis ; Graft vs Host Disease/epidemiology ; Graft vs Host Disease/etiology ; Hematopoietic Stem Cell Transplantation/adverse effects ; Hematopoietic Stem Cell Transplantation/methods ; Humans ; Immune Reconstitution ; Incidence ; Infant ; Lymphocyte Count ; Male ; Primary Immunodeficiency Diseases/complications ; Primary Immunodeficiency Diseases/epidemiology ; Primary Immunodeficiency Diseases/therapy ; Prognosis ; Retrospective Studies ; Risk Factors ; Transplantation Chimera ; Treatment Outcome
Language	English
Publishing date	2020-11-03
Publishing country	Netherlands
Document type	Journal Article ; Multicenter Study
ZDB-ID	779361-3
ISSN	1573-2592 ; 0271-9142
ISSN (online)	1573-2592
ISSN	0271-9142
DOI	10.1007/s10875-020-00895-3
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