Primary immunodeficiency

Difetti congeniti dell’immunità: non solo le vecchie immunodeficienze

Tommasini A, Valencic E, Naviglio S.

2024/4 — pag. 219-226 — DOI

Inborn errors of immunity are a rapidly-developing area of clinical study. Based on the description of a small set of disorders with a significant risk of infection that may be identified with a small number of lab tests, the definition has been expa...

Quando il polmone ci suggerisce una immunodeficienza

Lo Scalzo L, Tumminello M, Corsello G

2024/3 — pag. 189-192 — DOI

A neonate affected by a severe respiratory infection was eventually diagnosed with severe combined immunodeficiency with hyper-IgE (Job syndrome)....

Quando il polmone ci suggerisce una immunodeficienza

Lo Scalzo L, Tumminello M, Corsello G

2024/3 — pag. 58-58 — DOI

A neonate affected by a severe respiratory infection was eventually diagnosed with severe combined immunodeficiency with hyper-IgE (Job syndrome)....

L’ipogammaglobulinemia che aiuta a spiegare una anemia microcitica di difficile interpretazione

Catania MA, Trizzino A, Mosa C, Trizzino A, Regina I, Ferrari S, D’Angelo P

2022/7 — pag. 152-152 — DOI

The case of a 3-month-year old child presenting with microcytic anaemia is described. He subsequently developed viral encephalitis. The presence of hypogammaglobulinemia and of a mutation in TRNT1 gene at the genome analysis (NSC) led to the diagnosi...

Buona crescita, cattiva immunità

Grasso AG

2021/8 — pag. 257-257 — DOI

The author presents a case of common variable immunodeficiency due to adenosine deaminase 1 deficiency diagnosed in a 3-year-old girl with recurrent pneumonia slowly respondent to the antibiotic therapy....

Il deficit di IgA

C. Guiducci, F. Marchetti

2020/6 — pag. 365-369

IgA deficiency (D-IgA) in the paediatric population is often an occasional finding during tests performed for other reasons in children in whom an immunodeficiency disorder is not suspected. D-IgA is the most common primary immunodeficiency with a va...

Linfoistiocitosi emofagocitica, tubercolosi e immunodeficienza primitiva

L. Lodi, R. Cupone

2020/1 — pag. 20-20

Manifestazioni dell’infezione da virus di Epstein-Barr nel paziente con immunodeficit

F. Zunica, F. Saettini, A. Biondi, R. Badolato

2019/3 — pag. 163-169

Recurrent respiratory infections are frequent in healthy children. The association with peculiar signs and symptoms such as splenomegaly, lymphopenia, and hypogammaglobulinemia should induce suspicion of primary immunodeficiency (PID). The describe...

Otiti ricorrenti? Fatti gli anticorpi… se li hai!

A. Boncompagni, F. Felici, I. Fontana, S. Fornaciari, V. Bianco, L. Iughetti, E.C.M. Di Grande, A. Soresina, S. Amarri

2018/8

Leucociti: più alti che bassi

D.U. De Rose, R. Badolato

2018/7 — pag. 435-439

Leukocytosis is a common finding in children evaluation. In order to highlight the underlying cause, it is necessary to investigate which leukocyte subset is involved. Usually, leukocytosis is observed in children with infectious diseases. However,...

Vaccinazioni e immunodeficitBruxismo notturno

2017/9 — pag. 597

La diagnosi differenziale delle malattie che si presentano con IgE alte

G. Patelli, S. Farimbella, M. Cortesi, R. Badolato

2017/1 — pag. 39-43

Elevated IgE levels (higher than 1500 UI) can be detected in multiple conditions observed in childhood, including atopic dermatitis, infectious diseases or primary immunodeficiencies. This article describes the case of a child who in the first year...

MAS in WAS? (una Wiskott-Aldrich non convenzionale)

S. Amoroso

2016/10

Il bambino con infezione da micobatteri non tubercolari

M. Caironi, R. Badolato

2015/10 — pag. 634-638

Localized mycobacterial infections of cervical lymph nodes are frequently observed in normal children. These types of infections are sustained by environmental mycobacteria and can be treated by surgical therapy. On the contrary, disseminated mycob...

Infezioni respiratorie severe e immunodeficienze primitive: un raro caso clinico

F. De Maddi, F. Antonelli, R. Sottile, M. Iafusco

2015/7 — pag. 465-467

The hyper-immunoglobulin M syndrome is a rare genetic disorder characterized by elevated serum IgM levels and low to undetectable levels of serum IgG, IgA. These patients characteristically present with recurrent pulmonary infections and recurrent di...

Infezioni respiratorie severe e immunodeficienze primitive: un raro caso clinico

F. De Maddi, F. Antonelli, R. Sottile, M. Iafusco

2015/7

The hyper-immunoglobulin M syndrome is a rare genetic disorder characterized by elevated serum IgM levels and low to undetectable levels of serum IgG, IgA. These patients characteristically present with recurrent pulmonary infections and recurrent di...

Una diagnosi… “per esclusione di colpi”

A. Pirrone

2010/10

Maturazione del sistema immunitario e difetti congeniti

A. De Palma, S. Borgonovo, S. Beretta, D. Frasca, L. Re Ferrè, F. Simone

2004/10

Sette lattanti rossi: dalla dermatite atopica ai difetti congeniti dell’immunità

E. Zamuner, A. Tommasini

2003/8 — pag. 512-516

Seven infants with severe dermatitis, diarrhoea and/or infections are described. A primary immunodeficiency (PID) was considered among the diagnostic hypotheses in all cases. Thrombocytopenia, hypereosinophilia, lymphopenia and Ig deficiencies were...

Sindrome da iper IgE-infezioni ricorrenti acute (sindrome di Job)

G. Bartolozzi

1999/7