Ataxia-telangiectasia (AT) is the most frequent progressive cerebellar ataxia in infancy and childhood. Immunodeficiency which includes both cellular and humoral arms has variable severity. Since the clinical presentation is extremely variable, a high clinical suspicion will allow an early diagnosis. Serum alpha-fetoprotein is elevated in 80&#x2013;85&#x25; of patients and therefore could be used as a screening tool. Here, we present a case of a 5-year-old female infant who was admitted to our department at the age of 16 months because of gait disorders and febrile episodes that had begun at 5 months after the cessation of breastfeeding. Serum alfa-fetoprotein level was elevated. Other investigations showed leukocytopenia with lymphopenia, reduced IgG2 and IgA levels, and low titers of specific postimmunization antibodies against tetanus toxoid and Haemophilus B polysaccharide. Peripheral lymphocytes subsets showed reduction of T cells with a marked predominance of T cells with a memory phenotype and a corresponding reduction of na&#xef;ve T cells; NK cells were very increased (41&#x25;) with normal activity. The characterization of the ATM gene mutations revealed 2 specific mutations (c.5692C &#x3e; T/c.7630-2A &#x3e; C) compatible with AT diagnosis. It was concluded that AT syndrome should be considered in children with precocious signs of cerebellar ataxia and recurrent fever episodes.

Luigi Nespoli

Annapia Verri

Silvia Taj&#xe8;

Francesco Paolo Pellegrini

Maddalena Marinoni

A Precocious Cerebellar Ataxia and Frequent Fever Episodes in a 16-Month-Old Infant Revealing Ataxia-Telangiectasia Syndrome

Background. Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder of lymphocyte homeostasis due to defects in FAS-mediated apoptosis. ALPS is characterized by childhood onset of chronic lymphadenopathy and splenomegaly, autoimmunity, an expanded population of double-negative T cells (DNTCs), and an increased risk of lymphoma. This propensity for lymphoma in ALPS is not well understood. It is possible that lymphomagenesis in some of these patients may result from Epstein-Barr virus (EBV) infection exploiting the defective T-cell surveillance resulting from impaired FAS-mediated apoptosis. Case Presentation. 
We report the first case, to our knowledge, of lymphoma in a patient with ALPS that was clinically heralded by progressively increasing EBV viremia. We discuss its practical implications and the possible immune pathways involved in the increased risk for EBV-associated lymphoproliferative disorders in ALPS patients. Conclusion. In patients with ALPS, distinguishing chronic lymphadenopathy from emerging lymphoma is difficult, with few practical recommendations available. This case illustrates that, at least for some patients, monitoring for progressively increasing EBV viremia may be useful.

Romina Pace

Donald C. Vinh

Autoimmune Lymphoproliferative Syndrome and Epstein-Barr Virus-Associated Lymphoma: An Adjunctive Diagnostic Role for Monitoring EBV Viremia?

We present the case report of a 49-year-old type 2 diabetes mellitus patient presenting with abdominal pain and black stool for 15 days. A proper workup of laboratory investigations helped us diagnose autoimmune hepatitis with anticentromere antibodies. The authors would like to highlight that screening AIH patients for anticentromere antibody is not mandatory but can be considered, especially in the presence of disease-related symptomatology for quicker, more accurate diagnosis and optimum management.

Moushumi Lodh

Debkant Pradhan

Ashok Parida

Autoimmune Hepatitis with Anti Centromere Antibodies

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by increased susceptibility to bacteria and fungi since early in life, caused by mutations in any of the five genes coding for protein subunits in NADPH oxidase. X-linked variant CGD can be missed during routine evaluation or present later in life due to hypomorphic mutations and a residual superoxide production. The case of a 10-month-old boy who died of pneumonia is reported. The isolation of Burkholderia cepacia from his lung, together with a marginally low nitroblue tetrazolium reduction assay (NBT), made us suspect and pursue the molecular diagnosis of CGD. A postmortem genetic analysis finally demonstrated CGD caused by a hypomorphic missense mutation with normal gp91phox expression. In a patient being investigated for unusually severe or recurrent infection, a high index of suspicion of immunodeficiency must be maintained.

Saul Oswaldo Lugo Reyes

Nizar Mahlaoui

Carolina Prando

Lizbeth Blancas Galicia

Marjorie Hubeau

St&#xe9;phane Blanche

Capucine Picard

Jean-Laurent Casanova

Jacinta Bustamante

Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant

We report an 83-year-old diabetic male who presented with acute-onset renal failure, seizures, psychosis, pneumonia, and right foot gangrene. Investigations revealed thrombocytopenia, CSF lymphocytosis, ANA and dsDNA positivity, hypocomplementemia, and pneumonitis following which he was treated with pulse methylprednisolone. He was treated for Pseudomonas-related ventilator-associated pneumonia, candiduria, and E. coli-related bedsore infection prior to discharge. He was discharged at request and died 17 days later due to a respiratory infection.

Stalin Viswanathan

Kandan Balamurugesan

Rare Cause of Seizures, Renal Failure, and Gangrene in an 83-Year-Old Diabetic Male

Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome that results from abnormal nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function. This defect leads to recurrent catalase-positive bacterial and fungal infections as well as associated granuloma formation. We review the case of a 2-year-old boy who presented with ascites and fever of an unknown origin as manifestations of CGD. Cultures were negative for infection throughout his course, and CGD was suspected after identification of granulomas on peritoneal biopsy. Genetic testing revealed a novel mutation in the CYBB gene underlying his condition. This paper highlights the importance of considering CGD in the differential diagnosis of fever of unknown origin and ascites in children.

J. F. Moreau

John A. Ozolek

P. Ling Lin

Todd D. Green

Elaine A. Cassidy


							Veena L. Venkat

Andrew R. Buchert

Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child

Celiac disease (CD) and nonceliac gluten sensitivity (NCGS) are two distinct conditions triggered by the ingestion of gliadin. Although symptoms of nonceliac gluten sensitivity may resemble those of celiac disease, due to the lack of objective diagnostic tests, NCGS is associated with overlapping symptomatologies of autoimmunities and Crohn&#x2019;s disease. Furthermore, a gluten-free diet is only recommended for those who meet the criteria for a diagnosis of CD. Unfortunately, that leaves many nonceliac gluten-sensitive people suffering unnecessarily from very serious symptoms that put them at risk for complications of autoimmune disorders that might be resolved with a gluten-free diet. Thus, a new paradigm is needed for aid in diagnosing and distinguishing among various gut-related diseases, including CD, NCGS (also known as silent celiac disease), and gut-related autoimmunities. Herein, we report three different cases: the first, an elderly patient with celiac disease which was diagnosed based on signs and symptoms of malabsorption and by a proper lab test; second, a case of NCGS which was initially misdiagnosed as lupus but was detected as NCGS by a proper lab test with its associated autoimmunities, including gluten ataxia and neuromyelitis optica; third, a patient with NCGS overlapping with Crohn&#x2019;s disease. The symptomatologies of all three patients improved significantly after 12 months of gluten-free diet plus other modalities.

Aristo Vojdani

David Perlmutter

Differentiation between Celiac Disease, Nonceliac Gluten Sensitivity, and Their Overlapping with Crohn&#x2019;s Disease: A Case Series

Retinal infarction and scalp necrosis are described as unusual but devastating complications of giant-cell arteritis. We report a patient with this rare complication and emphasize the importance of timely diagnosis and treatment of giant-cell arteritis.

Mohammad Alimohammadi

Ann Knight

Scalp Necrosis as a Late Sign of Giant-Cell Arteritis

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Case Reports in Immunology publishes case reports and case series related to allergies, immunodeficiencies, autoimmune diseases, immune disorders, cancer immunology and transplantation immunology.

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Case Reports in Immunology - Table of contents 2013

title

Case Reports in Immunology publishes case reports and case series related to allergies, immunodeficiencies, autoimmune diseases, immune disorders, cancer immunology and transplantation immunology.

Case Reports in Immunology