D. Moratto

I. Shih, R. Kurman, W. Vermi, 2014, International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.

Early and late B-cell developmental impairment in nuclear factor kappa B, subunit 1-mutated common variable immunodeficiency disease.

V. Lougaris, A. Plebani, R. Badolato, 2017, The Journal of allergy and clinical immunology.

Proteus syndrome: evaluation of the immunological profile

V. Lougaris, A. Plebani, V. Salpietro, 2016, Orphanet Journal of Rare Diseases.

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study.

A. Fischer, A. Schulz, W. Friedrich, 2011, Blood.

Long-term outcome and lineage-speciﬁc chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

A. Fischer, A. Schulz, W. Friedrich, 2011 .

Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients.

V. Lougaris, A. Plebani, R. Badolato, 2010, Blood.

Defect of regulatory T cells in patients with Omenn syndrome.

L. Notarangelo, A. Plebani, R. Badolato, 2010, The Journal of allergy and clinical immunology.

Stem cell transplantation for the Wiskott–Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation

S. Giliani, S. Pai, L. Notarangelo, 2006, Bone Marrow Transplantation.

Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome.

F. Candotti, S. Anderson, D. Moratto, 2014, The Journal of allergy and clinical immunology.

SEN virus infection and its relationship to transfusion‐associated hepatitis

A. E. Yeo, Yasuhito Tanaka, T. Umemura, 2001, Hepatology.

Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.

L. Notarangelo, A. Plebani, N. Kutukculer, 2003, The Journal of pediatrics.

α- and β-papillomavirus infection in a young patient with an unclassified primary T-cell immunodeficiency and multiple mucosal and cutaneous lesions.

R. Badolato, R. Kumar, J. Doorbar, 2014, Journal of the American Academy of Dermatology.

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

David Mellis, Evelina Mazzolari, Paolo Vezzoni, 2008, American journal of human genetics.

Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.

V. Lougaris, A. Plebani, R. Badolato, 2017, Clinical immunology.

Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.

L. Dotta, V. Lougaris, A. Plebani, 2019, The journal of allergy and clinical immunology. In practice.

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

V. Lougaris, A. Plebani, S. Giliani, 2015, Clinical immunology.

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

Michael P. Snyder, G. Euskirchen, R. Chen, 2013, The Journal of allergy and clinical immunology.

SH2‐domain mutations in STAT3 in hyper‐IgE syndrome patients result in impairment of IL‐10 function

A. Plebani, R. Badolato, F. Bazzoni, 2011, European journal of immunology.

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

L. Notarangelo, J. Walter, V. Lougaris, 2017, Front. Immunol..

Correlation of bone marrow abnormalities, peripheral lymphocyte subsets and clinical features in uncomplicated common variable immunodeficiency (CVID) patients.

V. Lougaris, A. Plebani, D. Moratto, 2016, Clinical immunology.

Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations.

V. Lougaris, R. Badolato, S. Giliani, 2020, Clinical immunology.

Two X‐linked agammaglobulinemia patients develop pneumonia as COVID‐19 manifestation but recover

M. Chiarini, R. Badolato, M. Bezzi, 2020, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype

R. Badolato, V. Massa, Elisabetta Di Fede, 2022, American journal of medical genetics. Part A.

A novel EP300 mutation associated with Rubinstein‐Taybi syndrome type 2 presenting as combined immunodeficiency

R. Badolato, S. Maitz, A. Biondi, 2018, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency.

A. Plebani, R. Badolato, F. Colombo, 2016, Blood.

Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies

V. Lougaris, A. Plebani, F. Cardinale, 2015, Journal of Clinical Immunology.

When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis

C. Niemeyer, R. Masetti, A. Balduzzi, 2021, Pediatric hematology and oncology.

Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis

M. Chiarini, R. Badolato, S. Giliani, 2021, Frontiers in Immunology.

A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).

V. Lougaris, A. Plebani, B. Grimbacher, 2019, Clinical immunology.

Burden of Skin Disease in Selective IgA Deficiency and Common Variable Immunodeficiency.

V. Lougaris, A. Plebani, G. Gualdi, 2015, Journal of investigational allergology & clinical immunology.

A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.

V. Lougaris, A. Plebani, Michael Seleman, 2019, The Journal of allergy and clinical immunology.

SARS-CoV-2 infection in dialysis and kidney transplant patients: immunological and serological response

M. Chiarini, L. Notarangelo, R. Badolato, 2022, Journal of Nephrology.

Plasmacytoid Dendritic Cell Impairment in Metastatic Melanoma by Lactic Acidosis

C. Specchia, W. Vermi, D. Farina, 2020, Cancers.

Functional defects of dendritic cells in patients with CD40 deficiency.

L. Notarangelo, A. Plebani, R. Badolato, 2003, Blood.

Functional defects of dendritic cells in CD 40-deficient patients

A. Plebani, W. Vermi, F. Facchetti, 2003 .

Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease.

V. Lougaris, A. Plebani, G. Tabellini, 2015, The Journal of allergy and clinical immunology.

Presenilin 1 Protein Directly Interacts with Bcl-2*

J. Growdon, G. Frisoni, R. Nitsch, 1999, The Journal of Biological Chemistry.

Plasmacytoid Dendritic Cells Depletion and Elevation of IFN-γ Dependent Chemokines CXCL9 and CXCL10 in Children With Multisystem Inflammatory Syndrome

M. Chiarini, R. Badolato, G. Marchetti, 2021, Frontiers in Immunology.

Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.

V. Lougaris, A. Plebani, R. Badolato, 2018, Clinical immunology.

Successful hematopoietic stem cell transplantation for complete CTLA-4 haploinsufficiency due to a de novo monoallelic 2q33.2-2q33.3 deletion.

V. Lougaris, A. Plebani, D. Russo, 2020, Clinical immunology.

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency.

J. Lupski, F. Baas, R. Badolato, 2020, Blood.

patient with Wiskott-Aldrich syndrome Unprecedented diversity of genotypic revertants in lymphocytes of a

Michael J. DiCola, L. Muul, F. Candotti, 2012 .

Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.

V. Lougaris, A. Plebani, R. Badolato, 2020, Clinical immunology.

Immune response in children with COVID‐19 is characterized by lower levels of T‐cell activation than infected adults

M. Chiarini, R. Badolato, G. Marchetti, 2020, European journal of immunology.

Case Report: A Case of X-Linked Agammaglobulinemia With High Serum IgE Levels and Allergic Rhinitis

S. Giliani, M. Duse, A. Zicari, 2020, Frontiers in Immunology.

Analysis of Retroviral Vector Insertion Sites after T-Cell Directed Gene Therapy.

T. Wolfsberg, I. Holt, L. Muul, 2004 .

Autosomal Recessive Agammaglobulinemia: The Third Case of Igβ Deficiency Due to a Novel Non-sense Mutation

V. Lougaris, A. Plebani, R. Badolato, 2014, Journal of Clinical Immunology.

Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation.

S. Giliani, N. Riccardi, S. Volpi, 2019, Le infezioni in medicina : rivista periodica di eziologia, epidemiologia, diagnostica, clinica e terapia delle patologie infettive.

Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations

M. Chiarini, V. Lougaris, A. Plebani, 2021, Journal of Clinical Immunology.

Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations

V. Lougaris, A. Plebani, R. Badolato, 2021, Journal of Clinical Immunology.

Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome

L. Dotta, R. Badolato, S. Scala, 2023, JCI insight.

Profound T‐cell defects in Dubowitz syndrome

V. Lougaris, A. Plebani, P. Calzavara-Pinton, 2014, Pediatric Allergy and Immunology.

Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity.

V. Lougaris, A. Plebani, D. Moratto, 2019, Clinical immunology.

Lack of a prompt normalization of immunological parameters is associated with long-term care and poor prognosis in COVID-19 affected patients receiving convalescent plasma: a single center experience

A. Roccaro, M. Franchini, D. Moratto, 2022, Diagnosis.