This article presents the case of a 2 years and 6 months old boy with a history of multiple respiratory infections, which also associates a malabsorbtion syndrome. The patient presented for symptoms of arthritis. [ncbi.nlm.nih.gov]

Prior to presentation, he had noticed that the numbers were increasing, and thus, he visited our dermatology department for evaluation and work-up on 13 October 2008. [synapse.koreamed.org]

The family tree of first cousins with congenital agammaglobulinemia is presented and supports the concept that the disease is a sex-linked recessive trait appearing only in male children. Received March 14, 1957. Accepted June 11, 1957. [pediatrics.aappublications.org]

Gelfand is recipient to a Queen Elizabeth II Scientist Award. 1 This work was supported by Grants MT 4875 and MA 4596 from the Medical Research Council of Canada, and was presented in part at the annual meeting of the American Federation for Clinical [jimmunol.org]

• Chronic Diarrhea

  There are also frequent gastrointestinal infections (chronic diarrhea) caused by bacteria or some protozoa (Giardia intestinalis). [ivami.com]

  Symptoms include frequent episodes of: Bronchitis (airway infection) Chronic diarrhea Conjunctivitis (eye infection) Otitis media (middle ear infection) Pneumonia (lung infection) Sinusitis (sinus infection) Skin infections Upper respiratory tract infections [medlineplus.gov]

  Symptoms of AGMX include: gastrointestinal infections, including chronic diarrhea viral infections from viruses such as polio and hepatitis nasal infections eye infections blood stream infections lung infections skin infections bone infections bronchial [healthline.com]

  Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage. [icdlist.com]

• Recurrent Diarrhea

  diarrhea Cellulitis Life-threatening infections uncommon Sepsis Meningitis / encephalitis Septic arthritis/osteomyelitis ARUP Lab Tests Tests generally appear in the order most useful for common clinical situations. [arupconsult.com]

  Other infections reported included sinusitis, bronchiectasis, arthritis, skin infections, meningitis, and recurrent diarrhea. [bmcpediatr.biomedcentral.com]

• Failure to Thrive

  Niethammer Abstract Recently we have described four children with congenital AG associated with persistent diarrhea, malabsorption, and failure to thrive [5, 6]. [link.springer.com]

  […] to thrive Diagnosis IgG, IgA, IgE Normal or IgM Treatment Ataxia telangiectasia See ataxia telangiectasia. [amboss.com]

• Skin Lesion

  Immunologic and histopathologic examination of the skin lesions revealed that this unusual reaction may be caused by a delayed type hypersensitivity response. [ncbi.nlm.nih.gov]

  Müller C, Schüch K, Pawelec G, Wilms K, Wernet P (1982) Immunohistology of graft-versus-host disease mediated skin lesions and its correlation to a large granular lymphocyte surface phenotype and function. [link.springer.com]

  Fabry's disease is characterized clinically by chronic pain and acroparesthesia, gastrointestinal disturbances, characteristic skin lesions (angiokeratoma), progressive renal impairment, cardiomyopathy, and stroke. [synapse.koreamed.org]

  Kerstens PJ et al. (1992) Erysipelas-like skin lesions associated with Campylobacter jejuni septicemia in patients with hypogammaglobulinemia. [ ] 14. None (1952) Agammaglobulinemia. [ ] 15. [moldiag.com]

• Insect Bite

  Authors,, Source MeSH Agammaglobulinemia Child Culicidae Female Humans Hypersensitivity, Delayed IgA Deficiency Immunoglobulin D Immunoglobulin G Immunoglobulin M Insect Bites and Stings Radioallergosorbent Test Skin Skin Tests Pub Type(s) Case Reports [unboundmedicine.com]

• Angiokeratoma

  Fabry's disease is characterized clinically by chronic pain and acroparesthesia, gastrointestinal disturbances, characteristic skin lesions (angiokeratoma), progressive renal impairment, cardiomyopathy, and stroke. [synapse.koreamed.org]

• Papule

  A 23-yr-old Korean man presented with multiple tiny red to purple papules on his back and scrotum. Although he first noticed the lesions 5 yr previously, he has received no treatment. [synapse.koreamed.org]

• Corneal Opacity

  On ophthalmologic evaluation revealed the presence of fine, whorl-like superficial corneal opacities, and vertex dystrophy ( Fig. 4 ). [synapse.koreamed.org]

• Acroparesthesia

  Furthermore, he had a history of recurrent respiratory infections, acroparesthesia, and hypohidrosis from childhood, and had presented with persistent and progressive proteinuria from 14 yr. [synapse.koreamed.org]

• Suggestibility

  These findings suggest that in the absence of terminal B cell differentiation in vivo, certain patients with cAgamma possess precursor cells that can respond to antigen in vitro with the synthesis of specific humoral products, including IgM antibody. [ncbi.nlm.nih.gov]

  CONCLUSION: Although there is no comprehensive correlation between type of responsible BTK mutation and severity of clinical phenotype, our data suggest that BTK-deficient and autosomal recessive agammaglobulinemia patients differ significantly regarding [rcid.tums.ac.ir]

  The thymic alymphoplasia and general deficiency in small lymphocytes appear to be inherited characteristics and the evidence suggests that the primary defect is thymic alymphoplasia which results in generalized lymphocytic hypoplasia including lymphopenia [pediatrics.aappublications.org]

  Electrocardiography findings suggested left ventricular hypertrophy. [synapse.koreamed.org]

• Immunoglobulin A Decreased

  As the immunoglobulin levels decrease, the baby becomes increasingly vulnerable to bacterial infections. Common symptoms of immunoglobulin deficiency usually appear after the infant is six months old. [healthofchildren.com]

• Ventricular Hypertrophy

  Electrocardiography findings suggested left ventricular hypertrophy. [synapse.koreamed.org]

Normal but not patient HcPFC-precursor cells were inactivated by treatment with anti-mu antisera whereas generated HcPFC in both controls and patients were sensitive to treatment with anti-mu. [ncbi.nlm.nih.gov]

Normal but not patient HcPFC-precursor cells were inactivated by treatment with anti-µ antisera whereas generated HcPFC in both controls and patients were sensitive to treatment with anti-µ. [jimmunol.org]

no specific treatment or prophylaxis is indicated. [amboss.com]

Prognosis The prognosis depends on the age at diagnosis, compliance with therapy and the development of complications. Most patients on treatment can lead a normal life. [orpha.net]

XLA a new baby born, and suffered polio infection or infection, which has set a poor prognosis. Prevention Parents of children XLA people should do genetic counseling if their plan has many children. [bighealthnews.blogspot.com]

Infants who develop polio or persistent viral infections, however, have a poorer prognosis. Prevention Parents of a child with XLA should consider genetic counseling if they are planning to have more children. [medical-dictionary.thefreedictionary.com]

The prognosis in primary immunodeficiency disorders is variable and depends on the specific disorder. Congenital B-cell immunodeficiencies B-cell defects ( humoral immunity deficiencies ) account for 50–60% of all primary immunodeficiencies. [amboss.com]

Selective IgA deficiency ( SIgAD ) Definition : the most common primary immunodeficiency with near or total absence of serum and secretory IgA Epidemiology : approx. 1/220 to 1/1000 Etiology : unknown Clinical features Often asymptomatic May manifest [amboss.com]

Def'n: Telangiectasia, ataxia, variable immunodeficiency, autosomal recessive Etiology: Defective chromosome repair S S: Progressive cerebellar ataxia - usually presents during first 6 years, in wheelchair by 10-12. [quizlet.com]

Etiology The disorder is due to mutations in various genes involved in humoral immunity, including: IGHM (14q32.33), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23), IGLL1 (22q11.23), PIK3R1 (5q13.1) and TCF3 (19p13.3) Common causative microorganisms [orpha.net]

(Etiology) The causative factors of Bruton’s Agammaglobulinemia include mutations in the BTK gene, located on the X chromosome. [dovemed.com]

[…] responses Failure of the family and medical personnel to monitor intravenous immunoglobulin (IVIG) infusions Failure of the physician to withhold all live viral vaccines Failure of a physician to educate a patient with XLA about health care and maintenance Etiology [emedicine.medscape.com]

Selective IgA deficiency ( SIgAD ) Definition : the most common primary immunodeficiency with near or total absence of serum and secretory IgA Epidemiology : approx. 1/220 to 1/1000 Etiology : unknown Clinical features Often asymptomatic May manifest [amboss.com]

[…] cytometry – if protein expression is absent or reduced, suggests X-linked agammaglobulinemia (XLA) in males Differential Diagnosis X-linked hyper IgM syndrome X-linked severe combined immunodeficienc y X-linked lymphoproliferative disease HIV Background Epidemiology [arupconsult.com]

Summary Epidemiology Fewer than 100 cases of autosomal inherited agammaglobulinemia have been reported to date. [orpha.net]

Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology and Therapy. J Allergy Clin Immunol Pract. 2016; 4(6):1059-1065. PMID: 26883540 Berglöf, A, et al. [invitae.com]

[…] agammaglobulinemia. ( 27040158 ) Toyofuku M....Horikoshi Y. 2016 37 Spondylodiscitis in a Boy with X-linked Agammaglobulinemia: an Unusual Occurrence. ( 26961362 ) Bhattad S....Singh S. 2016 38 Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology [malacards.org]

These cell lines may represent some stages of B cell development and provide useful information on the pathophysiology of congenital agammaglobulinemia. [ncbi.nlm.nih.gov]

[…] immunodeficienc y X-linked lymphoproliferative disease HIV Background Epidemiology Incidence – estimated 1/250,000-700,000 male births Age 50% diagnosed by 2 years 80% diagnosed by 5 years Sex – 99% male Ethnicity – most commonly diagnosed in Caucasians Pathophysiology [arupconsult.com]

Meningococcal vaccine Prophylactic antibiotics C3 deficiency Definition : deficiency of the complement factor C3 and its cleaved fragments (e.g., C3b) Etiology : primary or secondary due to impairment in the regulatory proteins factor I or factor H Pathophysiology [amboss.com]

Pathophysiology In the absence of BTK, B lymphocytes do not differentiate or mature. Without mature B lymphocytes, antibody-producing plasma cells are also absent. [emedicine.medscape.com]

These results suggest that current management is not entirely effective at preventing deterioration of respiratory health or restoring QoL. [ncbi.nlm.nih.gov]

This gene encodes the BTK (Bruton Tyrosine Kinase), important for the development of B cells and normal functioning of the immune system protein, so that mutations in the BTK gene by preventing the development of a normal BTK protein, affecting immunoglobulin [ivami.com]

Prevention There is no known way to prevent inherited immunodeficiency disorders. If you have a family history of immunodeficiency disorders, you might want to seek genetic counseling. [stlukes-stl.com]

These mutations prevent the development and regulation of B lymphocytes Pre-B-lymphocytes are unable to mature into B lymphocytes. [dovemed.com]