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

Streptococcal sepsis presenting as acute abdomen in a child with transient hypogammaglobulinemia of infancy.

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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

Tonsillar granuloma associated with hypogammaglobulinemia

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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

Familial enteropathy with villous edema and immunoglobulin G2 subclass deficiency.

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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

Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.

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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

Renal amyloidosis in a patient with X-linked agammaglobulinemia (Bruton's disease) and bronchiectasis.

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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

Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia.

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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

Transient hypogammaglobulinemia in the adult. Functional assessment of T and B lymphocytes.

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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

Recurrent pulmonary alveolar proteinosis secondary to agammaglobulinemia.

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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

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

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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

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