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Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12 ‐related autoinflammatory disorder—A case report

Pediatric allergy and immunology, 2023-09, Vol.34 (9)

2023

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Défice de Fator H: Um Caso com Apresentação Atípica

Acta médica portuguesa, 2019-02, Vol.32 (2), p.158-161

2019

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Precision medicine: The use of tailored therapy in primary immunodeficiencies

Frontiers in immunology, 2022-12, Vol.13, p.1029560-1029560

2022

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Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

Frontiers in immunology, 2018-12, Vol.9, p.2863

2018

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Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome

Frontiers in immunology, 2021-04, Vol.12, p.654167

2021

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Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases

Frontiers in immunology, 2022-05, Vol.13, p.869728

2022

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Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis

Emerging infectious diseases, 2019-05, Vol.25 (5), p.976-979

2019

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Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment

Frontiers in pediatrics, 2023-06, Vol.11, p.1200401

2023

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Recurrent pyogenic infections caused by a novel Gln1420 mutation in the C3 gene

Frontiers in pediatrics, 2022-10, Vol.10

2022

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Methylotroph Infections and Chronic Granulomatous Disease

Emerging infectious diseases, 2016-03, Vol.22 (3), p.404-409

2016

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Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency

Rheumatology (Oxford, England), 2021-10, Vol.60 (10), p.4850-4854

2021

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Kingella kingae: An Unlikely Cause of Meningitis

The Pediatric infectious disease journal, 2021-06, Vol.40 (6), p.e247

2021

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Monoclonal IgG Kappa gammopathy previous to hematopoietic stem cell transplantation in an infant with severe combined immunodeficiency

Clinical immunology (Orlando, Fla.), 2012-11, Vol.145 (2), p.133-135

2012

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Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family

The Pediatric infectious disease journal, 2019-04, Vol.38 (4), p.416

2019

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A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

Journal of clinical immunology, 2021-08, Vol.41 (6), p.1376-1379

2021

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Homozygous V377I mutation causing mevalonate kinase

BMJ case reports, 2022-04, Vol.15 (4), p.e249135

2022

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Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis

Emerging infectious diseases, 2019-05, Vol.25 (5), p.976-979

2019

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The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation

Journal of clinical immunology, 2023-08, Vol.43 (6), p.1289-1301

2023

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Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease

European journal of medical genetics, 2018-04, Vol.61 (4), p.185-188

2018

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Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation

The Pediatric infectious disease journal, 2019-02, Vol.38 (2), p.e29

2019

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SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

The Journal of experimental medicine, 2021-06, Vol.218 (6)

2021

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Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency

Case Reports in Medicine, 2011-01, Vol.2011, p.527569-5

2011

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Congenital nephrotic syndrome in IL7Rα-SCID: A rare feature of maternofetal graft-versus-host disease

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2021-11, Vol.9 (11), p.4151-4153.e1

2021

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Primary immunodeficiency associated with chromosomal aberration - an ESID survey

Orphanet journal of rare diseases, 2016-08, Vol.11 (1), p.110-110, Article 110

2016

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Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation

Journal of Crohn's and colitis, 2021-11, Vol.15 (11), p.1908-1919

2021

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Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12 ‐related autoinflammatory disorder—A case report

Défice de Fator H: Um Caso com Apresentação Atípica

Precision medicine: The use of tailored therapy in primary immunodeficiencies

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases

Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis

Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment

Recurrent pyogenic infections caused by a novel Gln1420 mutation in the C3 gene

Methylotroph Infections and Chronic Granulomatous Disease

Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency

Kingella kingae: An Unlikely Cause of Meningitis

Monoclonal IgG Kappa gammopathy previous to hematopoietic stem cell transplantation in an infant with severe combined immunodeficiency

Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

Homozygous V377I mutation causing mevalonate kinase

Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis

The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease

Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation

SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency

Congenital nephrotic syndrome in IL7Rα-SCID: A rare feature of maternofetal graft-versus-host disease

Primary immunodeficiency associated with chromosomal aberration - an ESID survey

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation

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