Blood Protein Disorders

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...

Evoluzione singolare di un rash cutaneo

Stagi C

2025/7 — pag. 192-193 — DOI

A 3-month-old infant, born small for gestational age (SGA), presented with fever, irritability and a progressively spreading rash initially on palms and soles. Despite antibiotics and IV immunoglobulin therapy, the clinical condition worsened, with c...

Ematuria e proteinuria

Scaramuzzino F, Burlo F, Delcaro G, Peinkhofer M, Sutera M, Persia S, Emma F.

2024/7 — pag. 425-434 — DOI

Proteinuria and haematuria are common findings in children. However, they are indicative of a renal or urinary condition only in a minority of cases. The probability of an underlying disease causing haematuria and /or proteinuria increases when they...

Sindrome nefrosica e rischio tromboembolico

Cerverizzo M, Spagnoli C, Caponi L, Pugliese F.

2024/3 — pag. 189-192 — DOI

The case of a 13-year-old girl complaining of severe abdominal pain is presented. A pulmonary thromboembolism underlying a nephrotic syndrome was eventually diagnosed. ...

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...

La ricerca accademica e commerciale orientata ai bisogni del paziente: in ricordo di Alessandro Liberati

Liberati A.

2022/1 — pag. 10-10 — DOI

Una “crisi” celiaca

Lenhardt A, Salierno P, Calipa MT, Milocco C, Saletta S, Giglia D, Petaros P, Pascolo P, Dragovic D

2021/8 — pag. 529-532 — DOI

The authors present the case of a 3-year-old child with severe diarrhoea, hypoalbuminaemia, hypogammaglobulinaemia and anaemia eventually diagnosed as coeliac. The clinical features of the so-called coeliac crisis are discussed....

Una “crisi” celiaca

Lenhardt A, Salierno P, Calipa MT, Milocco C, Saletta S, Giglia D, Petaros P, Pascolo P, Dragovic D

2021/8 — pag. 254-255 — DOI

The authors present the case of a 3-year-old child with severe diarrhoea, hypoalbuminaemia, hypogammaglobulinaemia and anaemia eventually diagnosed as coeliac. The clinical features of the so-called coeliac crisis are discussed....

Le sindromi autoinfiammatorie: quando non è solo PFAPA

Tommasini A, Lepore L

2021/4 — pag. 221-225 — DOI

PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis) is the most common self-inflammatory disorder in children. The diagnosis of PFAPA is easy, based on Thomas criteria, and the prognosis is good. Differential diagnosis with heredita...

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...

Una “crisi celiaca” con severa ipogammaglobulinemia reversibile

M. Mainetti, G. Turlà, L. Mambelli, A. Tommasini, F. Marchetti

2020/1 — pag. 52-53

Disturbi del sonno in una lattante Infezioni respiratorie ricorrenti; difetto di IgA Ossiuriasi ricorrente

2019/5 — pag. 328

Un caso di immunodeficienza comune variabile che mima una sarcoidosi in un bambino di 9 anni

I. Maccora, E. Marrani, T. Giani, R. Cimaz, G. Simonini, C. Azzari

2019/5 — pag. 117-117

EMA biopsy: precisazioni nei casi di deficit di IgA Oltre il Graffio: Dengue, carrelli e... coscienze libere

2018/9 — pag. 558

Giuseppe

2018/9 — pag. 557

Vaccinazioni e immunodeficitBruxismo notturno

2017/9 — pag. 597

Anemia microcitica familiare Celiachia e difetto di IgA Cortisone e PFAPA

2017/6 — pag. 397

Test del sudore patologico: è sempre fibrosi cistica?

S. Viscovo, A. Casale, P. Stellato, F. De Gregorio, R. Auricchio, V. Raia

2017/2

I love (doctor) shopping…

F. Belcari, S. Agostiniani, G. Rossi, M.C. Caparello, R. Consolini

2016/5 — pag. 323-324

A thirteen-year-old boy presented with recurrent fever for two years and was checked up in several hospitals with the only outcome of hypogammaglobulinemia. He could not go to school for 90 days. He underwent clinical examination and lab tests th...

I love (doctor) shopping…

F. Belcari, S. Agostiniani, G. Rossi, M.C. Caparello, R. Consolini

2016/5

A thirteen-year-old boy presented with recurrent fever for two years and was checked up in several hospitals with the only outcome of hypogammaglobulinemia. He could not go to school for 90 days. He underwent clinical examination and lab tests that s...

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...

Sindrome da Iper-IgD (HIDS): descrizione di un caso clinico

C. Granato, M.F. Gicchino, G. Cantelmi, A. Mauro, A.N. Olivieri

2015/3

Un bambino assopito con sindrome nefrosica

M. Marsciani, A. Biasini

2014/4 — pag. 257-259

Idiopathic nephrotic syndrome is a disease characterized by proteinuria over 40 mg/m2/hr, hypoalbuminemia, edema and hyperlipemia. Its incidence is 2-3 cases per 100,000 children per year. The response to steroid therapy is expected in 90% of childre...

Un bambino assopito con sindrome nefrosica

M. Marsciani, A. Biasini

2014/4

Idiopathic nephrotic syndrome is a disease characterized by proteinuria over 40 mg/m2/hr, hypoalbuminemia, edema and hyperlipemia. Its incidence is 2-3 cases per 100,000 children per year. The response to steroid therapy is expected in 90% of childre...

Il difetto di IgA: da un’analisi clinico-epidemiologica alla proposta di un protocollo ospedaliero

I. Della Libera

2013/10

Difetto di mevalonato-chinasi: molte facce di una stessa malattia

C. De Pieri, A. Insalaco, A. Taddio, E. Barbi, L. Lepore, A. Tommasini, A. Ventura

2013/8 — pag. 501-506

Mevalonate kinase deficiency (MKD), also known as Hyper IgD syndrome, is an inborn error of metabolism characterized by inflammatory dysregulation and, in most severe cases, neurodevelopmental delay. The clinical phenotype of each patient depends o...

Il morbo di spritz… ovvero un caso di iperckemia in un ragazzo celiaco

S. Mazzoleni

2013/8

Un caso di Kawasaki “full optional”

G. Gortani, D. Dragovich, G. Di Leo, F. Marchetti

2011/4

We describe a case of severe Kawasaki disease characterized by multiorgan involvement and rapid progression of symptoms. Severe diarrhoea with hypoproteinemia, refractory hypokalaemia and incipient cardiac failure are the main features of the present...

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

Difetto di IgA e celiachia: diamo una possibilità a TGA- ed EMA-IgA?

M. Fornaro, S. Pecori, G. Zanoni, C. Danchielli, E. Valletta

2010/6 — pag. 395-396

Rischio di epilessia dopo trauma cranico. Pediatri, fermatevi! 1. Pediatri (e medici dell’adulto), fermatevi! 2. Anamnesi mirata per la Kawasaki. Orecchie rosse. Mortalità nella celiachia e… aviazione. Otite media, antibiotici e prevenzione della mastoidite. Febbre periodica con iper-IgD (HIDS): stato dell’arte.

2009/4 — pag. 215-216

Neutropenia da mielocatessi

R. Badolato

2009/1 — pag. 35-38

The works describes a case of WHIM (Warts, Hypogammaglobulinemia, Immunodeficit, Myelokathexis) characterized by neutropenia, hypogammaglobulinemia, reduced number of lymphocytes B (C19) in blood stream, and bone marrow rich in element of the myelo...

Malattia di Ménétrier in un bambino di 3 anni

M. Lorusso, S. Bevilacqua, E. Pozzi, F. Mangiantini, A. Gissi, P. Lionetti

2008/4 — pag. 260-261

We report a case of a 3-year-old boy, who presented vomiting and edema for one week. The latter was first localized in the periorbital region and then generalized. Laboratory studies revealed severe hypoproteinemia (total protein: 2.9 g/dl) and C...

Una strana epatite autoimmune

G. Maggiore

2007/5 — pag. 320

Orticaria cronica e tiroidite autoimmune:un'associazione da ricercare in pediatria

G. Inrli

2005/3

Grave stato disprotidemico da malnutrizione

2004/9 — pag. 585-585

We report a six-months-old girl presenting with signs and symptoms of protein malnutrition: generalised edema with a rotund sugar baby appearance, abdominal distension and poor muscle tone. She presented also skin lesions, extreme irritability, t...

Un lattante con pianto, anemia e bassi valori di immunoglobuline

M. Lazzerini

2003/10

Un lattante con pianto, anemia e bassi valori di immunoglobuline

M. Lazzerini

2003/10

Un lattante con pianto, anemia e bassi valori di immunoglobuline

M. Lazzerini

2003/10

Un lattante con pianto, anemia e bassi valori di immunoglobuline

M. Lazzerini

2003/10

Un lattante con pianto, anemia e bassi valori di immunoglobuline

M. Lazzerini

2003/10

Un lattante con pianto, anemia e bassi valori di immunoglobuline

M. Lazzerini

2003/10

Casi difficili (per sognare), casi “facili” (per vaccinare), casi indimenticabiliCeliachia e difetto di IgA“NO news, good news”I rischi del parto cesareoDeficit di attenzione con iperattività: alla riscoperta del “minimal brain damage”?InfluenzaEsposizione in utero all’alcolObesità e televisioneRischio di malattie immunomediate e vaccinazioni

2003/10 — pag. 637-638

La talidomide tra passato e futuro

F. Marchetti

2003/8 — pag. 489

La talidomide

F. Marchetti, A. Lenhardt, M. Lazzerini, Et Al.

2003/8 — pag. 517-523

The Authors provide an overview of thalidomide: mechanism of action, pharmacokinetics, efficacy and safety profile, with particular reference to experiences reported with pediatric patients. The review was carried out using the MEDLINE database for...

Domande e risposte

G. Longo

2002/5 — pag. 327-328

FEGATO: AUTOIMMUNITÅ, TRAPIANTO, INFEZIONEEpatite autoimmune: cinquant’anni e non li dimostra!

G. Maggiore, M. Sciveres

2002/5 — pag. 291-310

Autoimmune hepatitis (AIH) is an uncommon disease occurring mainly in women and characterised by the morphological changes of interface hepatitis on liver biopsy, hypergammaglobulinemia, elevated serum aminotransferases, and circulating autoantibod...

Febbre periodica ereditaria (Parte seconda)

G. Bartolozzi

2002/2

Febbre periodica ereditaria (Parte prima)

G. Bartolozzi

2002/1

Prevalenza di malattia celiaca in bambini con deficit totale di IgA non identificati dagli IgG e riconosciuta dal test ELISA per anti-htTG

A. Lenhardt, A. Plebani, A Insalaco, A. Rovelli, A. Tommasini, V. Villanacci, A. Ventura

2001/9 — pag. 623-625

The serum of 134 subjects with IgA deficiency was studied by carrying out an ELISA IgG test for anti-htTG antibodies and an AGA IgG test. The ELISA test was positive in 16 cases out of 134: AGA IgG test was positive in 22 cases out of 134. Out of ...

Quando sospettare un’immunodeficienza

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

2001/8 — pag. 524-528

FEBBRI PERIODICHESindromi febbrili periodiche in Pediatria

A. Tommasini, E. Neri

2001/4 — pag. 225-238

A literature review is presented covering the recent advances regarding molecular bases and clinical features of recurrent febrile syndromes in childhood. These include hypoimmune (cyclic neutropenia, benign neutropenia) and hyperimmune (mediterran...