Immunologic Deficiency Syndromes

Lesioni cutanee atipiche nel lattante: quando approfondire?

Iannicelli A, Giagnuolo G, Tessitore M, Uva A, Martemucci L, Menna G

2026/2 — pag. 35-37 — DOI

Complicated and recurrent skin lesions in childhood should raise suspicion of neutropenia and prompt immuno-haematological evaluation. Through the case of an infant with recurrent dermatitis and suppurative skin infections associated with severe neut...

Diagnosi e gestione precoce del neonato con familiarità per disordine congenito dell'immunità

Laudante U, Falco G, Ferrandino C, Romano AC, Turchetti F, Romano R, Giardino G

2026/1 — pag. 23-23 — DOI

This study examines the role of early diagnosis in managing inborn errors of immunity, which are often characterised by early onset and high mortality. By analysing data from 15 patients with a positive family history, the research evaluated the util...

Una strana pancitopenia: dalla gestione in urgenza alla diagnosi genetica

Di Filippo M, Rossoni L, Nebiolo M, Fioredda F, Carrato V, Pirlo D

2024/10 — pag. 201-206 — DOI

Wiskott-Aldrich syndrome (WAS) is a rare X-linked genetic disorder caused by a mutation in the WAS gene that codes for the WASp protein, which is involved in the functioning of the cytoskeleton of non-erythroid haematopoietic cells. This mutation lea...

Il bambino che ritorna perché ha sempre la febbre: capire, sapere e saper fare

De Nardi L, Insalaco A, De Benedetti F.

2024/6 — pag. 355-363 — DOI

Fever is a very common symptom in children, mostly due to infections. It is a physiological body defence mechanism against damage. However, when it is recurring, it is difficult to understand which are the underlying causes. Recurrent fever is most c...

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...

Un inspirio insolito: la vocal cord dysfunction

Fracas D.

2024/3 — pag. 189-192 — DOI

The diagnosis of vocal cord dysfunction was eventually made in a 10-year-old boy with repeated self-limited episodes of inspiratory dyspnoea....

Sindromi, genetica e immunologia: dall’inizio della fine alla fine dell’inizio

Guerra F, Saettini F, Biondi A.

2023/9 — pag. 569-574 — DOI

Syndromic immunodeficiencies are defined as a group of immunodeficiencies in which the immunological defect may be found only in a subgroup of patients. They fall within a more complex clinical picture and may not represent the primary clinical probl...

Una MIS-C come possibile spia di errori congeniti dell’immunità

Drago E, Massaccesi E, Ridella F, Scalas M, Caorsi R, Fioredda F

2023/3 — pag. 52-52 — DOI

The Authors described the case of a 2-year-old child presenting with the typical clinical features of MIS-C finally diagnosed as Wiskott-Aldrich immunodeficiency....

Se cammina male e fa infezioni, guardale gli occhi!

De Nardi L.

2022/10 — pag. 652-652 — DOI

A 7-year-old girl with a longstanding history of recurrent pneumonia, arthritis and unsteady gait was finally diagnosed with ataxia-telangiectasia. The classical bulbar conjunctival telangiectasia was present and helped to make the diagnosis....

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 difetto di IgA: malattia o marcatore?

A. Tommasini, S. Naviglio

2020/6 — pag. 370

I lividi di ADA(2)

A. Filpo

2020/1 — pag. 14-15

Troppi “matti” tra i “malati”. Il caso delle MICIPneumococco alla ribalta (1). Infezioni da ceppi emergenti Pneumococco alla ribalta (2). Infezioni e immunodeficienze Dilatazione delle vie urinarie nel feto? Calma e gesso Sostanzialmente un pancreas artificialeKawasaki indimenticabile

2019/9 — pag. 553-554

Il bambino con i linfonodi ingrossati: una messa a punto attraverso i casi

E. Benelli, C. Zanatta, G. Muffato, V. Biscaro, M. Cacciatore, P. Grotto

2019/5 — pag. 289-296

Lymphadenitis is a common finding in Paediatrics. However, it could be a sign of many different diseases, varying from banal viral infections to severe neoplastic disease or immunodeficiency. Some clinical aspects can be useful to differentiate the...

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

Sindrome da delezione 22q11.2, ovvero la sindrome di DiGeorge con molte sfumature

A. Galimberti

2017/5 — pag. 326-327

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

S. Amoroso

2016/10

STAT-e attenti ai micobatteri!

E. Conversano, D.U. De Rose, L. Dotta, C. Mingotti, D. Vairo, S. Pulcini, S. Tripodi, S. Boccacci, A. Lombardi, N. Miglietti, A. Plebani, R. Badolato

2016/2

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...

Linfoistiocitosi emofagocitica: una complicanza che non ti aspetti

A. Grigoli, P. Farruggia, G. Bruno, S. Cannella, D. Caselli, P. D’Angelo, D. Russo, A. Trizzino, S. Tropia, O Ziino, M. Aricò

2014/10

Haemophagocytic lymphohistiocytosis (HLH) is a clinical syndrome caused by hypersecretion of cytokines secondary to temporary or persistent failure of the immune system. The sporadic form usually occurs in the first months of life as a result of an i...

Una strana puntura d’insetto

E. Fabbri, G. Vergine, R. Pericoli, B. Filippini, M.E. Guerzoni, V. Vecchi, G. Ancora

2014/5

Ecthyma gangrenosum is a well known cutaneous manifestation associated with Pseudomonas infection. It rarely occurs in healthy children, so that, when present, may be the first sign of an underlying immunodeficiency or of a lympho-proliferative disea...

La candidiasi mucocutanea cronica

L. Guadrini, R. Badolato

2013/6 — pag. 372-376

The mucocutaneous candidiasis (CMC) is a chronic condition characterized by persistent or recurrent Candida infections ranging from superficial infections such as oral thrush, candidal onychomycosis and genital mucosa infections to systemic potenti...

Sindrome PFAPA: una sconosciuta fra noi

M. Pasquetti

2012/7

Il pediatra, gli adolescenti e il passaggio alle cure del medico dell’adulto Occhi danzanti PANDAS: è (finalmente) l’ora dell’estinzione? Un nuovo tassello nel puzzle delle immunodeficienze primitive Neuroprotezione nell’asfissia neonatale: non solo ipotermia Maschietti con le tette Né vecchia, né signora PROMEMORIA

2012/6 — pag. 353-354

L’ipereosinofilia

A. De Cunto, C. Geraci, E. Rubinato, G. Longo, A. Lorenzati, R. Mazzone, U. Ramenghi

2011/8 — pag. 499-504

Blood eosinophilia, especially if found fortuitously, often remains poorly understood. This article provides a diagnostic approach to hypereosinophilia, focusing on the context in which these data are found. The diagnostic evaluation of hypereosino...

Immunodeficienze primitive: istruzioni per l’uso

A. Pirrone, A. Tommasini

2010/10 — pag. 629-635

Primary immunodeficiency diseases (PIDs) are a wide group of rare disorders. In spite of the set up of warning criteria, a practical approach for suspect and diagnosis is still difficult. Based on few exemplar clinical cases and on the review of ou...

Una diagnosi… “per esclusione di colpi”

A. Pirrone

2010/10

Infezioni ricorrenti nel lattante: spia di un problema più complesso?

C. Calitri, F. Mignone, C. Bertaina, C. Gabiano, C. Scolfaro

2010/10

An 11-month-old girl was referred to our Paediatric Department for immunological evaluation. She has had history of recurrent infections since birth. During different hospital admissions, blood tests revealed persistent microcytic anemia, liver funct...

Candidiasi resistente agli antimicotici in un lattante

R. Badolato

2009/10 — pag. 654-656

Mucocutaneous candidiasis constitutes a symptom that can be observed as presenting manifestation of many primary immunodeficiency. However, candidiasis being resistant to anti- fungal therapy can constitute the first symptom of Autoimmune PolyEndoc...

Utilizzo delle immunoglobuline endovenose nella pratica clinica in pediatria

G. Ventura, M. Rabusin, E. Spinelli, R. Badolato

2009/6 — pag. 371-381

Intravenous immunoglobuline is a blood product prepared from the serum of between 1,000 and 15,000 donors per batch. It is the treatment indicated for patients with antibody deficiencies and it is used in replacement doses of 200-400 mg/kg. In cont...

Grandezze e miserie delle terapie biologicheDieta senza glutine e qualità della vitaReumatismo articolare o artrite reattiva post-streptococcica?La stipsi (e l’allergia) non è più un problemaKawasaki: anche qui arriva l’infliximabUn gene, una specifica infezione. Ovvero: Mendel riscrive il capitolo delle immunodeficienzeCasi indimenticabili

2008/10 — pag. 621-622

Dal bambino linfatico al bambino con infezioni respiratorie ricorrenti

F. Panizon

2006/3 — pag. 183-189

Un ragazzo con dolore addominale e diarrea

P. Salierno, S. Martelossi, V. Villanacci, F. Marchetti

2005/8

Maturazione del sistema immunitario e difetti congeniti

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

2004/10

Sette piccoli indiani: riflessioni in merito a sette casi di eritrodermia a esordio precoce

L. D. Notarangelo

2003/8 — pag. 488

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...

Il bambino con tosse cronica e bronchiectasie: inquadramento e proposte terapeutiche

C. Braggion, U. Pradal, A. Delmarco, M. Carli

2003/6 — pag. 371-380

Little is known about the prevalence of bronchiectasis (BR) in paediatric age. However, outside the case of cystic fibrosis (CF), they seem to be rare. The BR can be localised or disseminated. For the former, the most common etiology is post-infect...

Immunità naturale a rischio di malattiaLa Pediatria di famiglia, la ricerca, l’otitePronto Soccorso: il servizio più amato dagli italiani

A. Tommasini

2002/3 — pag. 143-144

Quando sospettare un’immunodeficienza

A. Tommasini, A. Insalaco, C. Perez, A.R. Soresina, A. Plebani

2001/8 — pag. 524-528

Autismo e secretina Una storia morta sul nascere?Anemia sideropenica refrattaria: un ruolo per l’Helicobacter pylori?Alloioccus otitis: chi era costui?Dormire con i genitori può essere pericolosoImmunodeficienze: espansione delle conoscenzePertosse, eritromicina, stenosi del piloroHLA e prognosi dell’epatite CAdenotonsillectomia nell’otite ricorrente: “È Paradise che parla”Vaccinazione antimorbillo: Italia peggio dei “turchi”

2000/1 — pag. 11-12

Infezioni respiratorie ricorrenti

F. Panizon

1999/5

Lo scandalo delle morti per influenza

S. Fedele

1999/3 — pag. 143-145

Malattia granulomatosa cronica: una diagnosi che può sfuggire

C. Pignata, L. Balducci, M. Bardare e coll.

1998/3 — pag. 155-160

This is a comprehensive review article aimed at providing to paediatricians the basic knowledge on CGD and at improving the quality of care of patients affected by this rare disorder of cellular immune response. Since early diagnosis is very imp...

Uso di immunoglobuline e rischio di epatite C

G. Bartolozzi

1997/6 — pag. 369-370

Recently HCV infection has been reported in association with administration of parenteral immunoglobulin. In some patients HCV infection was associated with severe, acute course, attributable to host factors, such as immunodeficiencies. Many of...