Disease Information for Agammaglobulinemia, x-linked, infantile

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Clinical Manifestations
Signs & Symptoms
Acute Diarrhea
Acute Diarrhea in Children
Anorexia in Infant
Chronic Diarrhea in a Child
Diarrhea
Diarrhea and Weight Loss
Diarrhea in Children
Diarrhea, chronic
Diarrhea, recurrent
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Chills
Short stature
Short stature Child
Clinical Presentation & Variations
Presentation/Recurrent pneumonia Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/Six months
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Immune defects
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Male
Laboratory Tests
Microbiology & Serology Findings
Common vaccination antibodies absent/low
Abnormal Lab Findings (Non Measured)
Cytogenetics Abnormal
Absent/Low B-cells on Flow Cytometry
Flow cytometry tests/abnormal (Lab)
Abnormal Lab Findings - Decreased
Gamma globulin (Lab)
Globulin, serum (Lab)
IGE/Immunoglobulin E (Lab)
IGG/Immunoglobulin G (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Acute leukemia
Agammaglobulinemia
Asthma
Bronchiectasis
Hypogammaglobulinemia
Immunodeficiency
Infections
Intestinal/gut lymphoma
Leukemia
Lymphoblastic leukemia/acute
Pneumonia, pneumococcal
Pneumonia, recurrent
Pneumonia/Bronchopneumonia
Staphylococcus aureus infection
Asthma Children
Disease Mechanism & Classification
Class
CLASS/Humoral Immune System Disorder (ex)
CLASS/Immune System Disorder (ex)
CLASS/Pediatric disorders (ex)
CLASS/Hematologic (category)
CLASS/Spleen/thymus/RES/immune system (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene locus Xq21
Pathophysiology/Gene locus Xq21.3-q22
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Infection resistant to usual treatments
Pathophysiology/XLA gene (X linked agamma)
Pathophysiology/Proteins/blood disorder (ex)
Pathophysiology/Immune physiology/defective
Pathophysiology/Poor immune resp/encapsulated bacteria
Pathophysiology/Poor slow recovery/ bacteria infection
Process
PROCESS/Hereditofamilial (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Immune system disorder (ex)
PROCESS/Immunodeficiency disorder/Primary
Synonyms
Synonym
agammaglobulinemia Bruton, AGAMMAGLOBULINEMIA SEX LINKED, agammaglobulinemia X linked, AGAMMAGLOBULINEMIA X LINKED INFANTILE, baby, Bruton agammaglobulinemia, BRUTON DISEASE, Bruton X linked agammaglobulinemia, Bruton's agammaglobulinaemia, Bruton's agammaglobulinemia, Bruton's hypogammaglobulinaem, Bruton's hypogammaglobulinaemia, Bruton's hypogammaglobulinemia, Bruton's Sex Linked Agammaglobulinemia, Bruton's type agammaglobulinaemia, Bruton's type agammaglobulinemia, Bruton's X Linked Agammaglobulinemia, infant, Infant (person), Infant child, Infant child (person), Infantile X linked agammaglobulinemia, Infants, X linked agammaglobulinaemia, X linked agammaglobulinemia, X linked agammaglobulinemia (disorder), XLA, XLA X linked agammaglobaemia, XLA X linked agammaglobulinaemia, XLA X linked agammaglobulinemia, Synonym/Bruton's disease
Treatment
Drug Therapy - Indication
RX/Gamma globulin/prophylaxis/low dose
Definition

Also Bruton"s agammaglobulinemia; congenital agammaglobulinemia terms; Panhypogammaglobulinemia of male infants characterized by levels of igG <100 mgm/dl and other Ig levels low or absent, low or absent B cells, intact cellular immunity, nd onset of infections sometime after age 6 months, when maternal antibodes disappear.

[merck manual 17th ed]--------------------------

Males with X-linked agammaglobulinemia are usually well until 6 to 9 months of age, the time by which maternal antibodies acquired in utero have been largely catabolized; These patients typically suffer from recurrent respiratory tract, joint, central nervous system, and systemic infections with high-grade encapsulated pyogenic bacteria; The spectrum of infections is broad, including pneumonia, sinusitis, otitis, meningitis, and sepsis;The most common bacterial isolates include Streptococcus pneumoniae, Haemophilus influenzae, and Streptococcus sp. Patients are particularly susceptible to viral hepatitis, and a number of patients have developed paralysis after exposure to live attenuated polio vaccine; A significant number of X-linked agammaglobulinemia patients have also died as the result of chronic echovirus infections of the central nervous system. This disorder is typically accompanied by a dermatomyositis-like syndrome; A small percentage of patients with X-linked agammaglobulinemia develop neutropenia, which may be transient, cyclic, or persistent; Pneumocystis carinii pneumonia has been reported in neutropenic agammaglobulinemic patients; In contrast to patients with defective cellular immunity, growth retardation is uncommon as are fungal or other opportunistic infections;

Patients with X-linked agammaglobulinemia typically possess very low serum concentrations of g-globulin (less than 100 mg/dl) and very low to undetectable concentrations of immunoglobulin in secretions; Analysis of peripheral blood typically reveals normal concentrations of total lymphocytes but very low numbers of B lymphocytes. While pre-B lymphoid series cells can be identified in the bone marrow of these patients, biopsies of lymphoid tissues reveal hypoplasia, the absence of germinal centers, and markedly diminished numbers of plasma cells; Patients with X-linked agammaglobulinemia are supported by assiduous attention to signs of infection, antibiotics, and immunoglobulin replacement therapy; The major long-term problem in patients who avoid complications like chronic viral CNS infections is the development of chronic and recurrent respiratory tract infections, which can lead to the development of bronchiectasis and pulmonary insufficiency;

[Clinical Laboratory Medicine, Kenneth D. McClatchey. Text (c) 1994 Williams and Wilkins]

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