agammaglobulinemia/edema

Two middle-aged men presented with generalized erythroderma, diffuse alopecia, and hyperkeratosis of the palms and soles. Histopathologic study demonstrated spongiosis (epidermal intercellular edema) with a perivascular lymphohistiocytic infiltrate. Complete immunologic evaluation demonstrated that

Group A streptococcal sepsis was documented in a child who presented with an acute abdomen. Massive retroperitoneal edema was observed at laparotomy with no focus of infection. Immunologic evaluation revealed low serum immunoglobulins and deficient in vitro IgG synthesis consistent with transient

Background: Rare tonsillar granulomas may be caused for example by infections, malignancies or sarcoidosis. Granulomas also occur in inborn errors of immunity (IEI) such as common variable immunodeficiency (CVID) with B cell maturation

We describe a familial form of recurrent acute, life-threatening secretory diarrhea associated with distinctive jejunal histologic changes and IgG2 subclass deficiency. Symptoms begin abruptly with anorexia and vomiting, and progress within hours to massive secretory diarrhea and shock with profound

Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Griscelli syndrome (GS). We report the case of a 2-month-old male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who

OBJECTIVE We present a patient with Bruton's disease and bronchiectasis who developed renal AA amyloidosis. METHODS A 38 year-old man was diagnosed with X-linked agammaglobulinemia (Bruton's disease) when he was 3 years old, and he has been treated with parenteral immunoglobulin since then. Eighteen

X-linked agammaglobulinemia (XLA) diagnosed in the first year of life is an immunodeficiency with a life-long indication for substitution of immunoglobulins, due to lack of B lymphocytes in the periphery. The decrease of bacterial infection frequency and severity is an effect of immunoglobulin

The woman described suffered from a pruritic erythematous rash, edema, malaise and fever which appeared during Tegretol therapy. The patient was shown to have a severe hypogammaglobulinemia with absence of circulating B lymphocytes, but normal cell-mediated immunity. There was an absence of in vitro

Pulmonary alveolar proteinosis (PAP) is characterized by the accumulation of surfactant derived material in the lung of patients. PAP is rare in children. The patient presented with respiratory failure. In the history she was diagnosed with agammaglobulinemia at 8 months of age and has been treated

In this report, we describe a brother and sister who presented at birth with short-limb skeletal dysplasia, polyhydramnios, prematurity, and generalized edema. Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists, spatulate