Case Reports Congenital agammaglobulinemia presenting with ecthyma gangrenosum M Nussinovitch et al. Acta Paediatr Scand. 1991 Jun-Jul. Abstract Two males with presumed X-linked agammaglobulinemia (X-LA) presented with ecthyma gangrenosum. [pubmed.ncbi.nlm.nih.gov]

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]

Methods: presentation of clinical case Results: Evolution of the patient: since 6 años received gamaglobulina 500 mg - kp. Normal development, no presented new infectious processes. [wao.confex.com]

• 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]

• 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]

• 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]

Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy. Clin Immunol. 2007;122(2):156-162. DOI: 10.1016/j.clim.2006.10.002 [ Links ] 76. Park MA, Li JT, Hagan JB, Maddox DE, Abraham RS. [scielo.org.mx]

• Immunoglobulin A Decreased

  Over time, their immunoglobulin levels begin to decrease because they cannot successfully produce their own. As the immunoglobulin levels decrease, the baby becomes increasingly vulnerable to bacterial infections. [healthofchildren.com]

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]

Management and treatment There is no curative treatment but good disease control can be achieved through consistent gammaglobulin therapy. This can be given intravenously (400-600 mg/kg every 3 to 4 weeks) or subcutaneously (100 mg/kg every week). [orpha.net]

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]

Prognosis Patients with XLA have survived into their late 40s. [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]

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]

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]

Therefore the goals of treatment are threefold: to treat infection effectively, to prevent repeated infections, and to prevent the lung damage that may result from repeated infections. [encyclopedia.com]