A case of Bruton’s disease presenting with recurrent pneumonia

A case of Bruton’s disease presenting with recurrent pneumonia

X-linked agammaglobulinemia also known as Bruton’s disease, is a humoral immunodeficiency disease characterized by recurrent bacterial infections due to low levels or absence of serum immunoglobulins. It has been shown to be caused by mutations in the gene encoding Bruton tyrosine kinase. Although bacterial infections typically begins 6 9 months after birth when maternal IgG is reduced below th...

A case of severe combined immunodeficiency presenting with CMV pneumonia

A five month-old girl was admitted in Ali Asghar Children’s Hospital with a history of three months of fever, cough and dyspnea that her symptoms have exacerbated since two weeks before admission. She was the first child of the family born to consanguineous parents. She was clinically healthy in the past and had gained weight normally and undergone vaccination program with no complication unti...

Cri du Chat Syndrome: a Case Report with Recurrent Pneumonia and Chronic Stridor

Introduction Cri du chat syndrome is a rare genetic disorder due to deletion of variable length of short arm of chromosome 5(5p). It mainly presents with typical cat like cry, facial dysmorphism, poor growth with feeding problems and severe cognitive, speech, and motor delays. Case Report We present here a one year old child who did not presented with typical features but presented with recurre...

Mediastinal epidermoid cyst in an old man with recurrent pneumonia: A case report

Mediastinal epidermoid cyst is a rare condition that is considered as a congenital disorder. Various manifestations from asymptomatic cases to serious symptoms may be found in these patients. However, some cases may be diagnosed incidentally. Here, we report an old man with recurrent pneumonia who demonstrated symptoms of respiratory distress and chest pain. The high resolution computed tomogra...

A Case of Gaucher\'s Disease with Recurrent Fetal Loss and Antiphospholipid Antibody Syndrome