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]

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]

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]

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]

• Anemia

  Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities Norrie disease oculocerebrorenal syndrome + Ogden syndrome Partington syndrome Pelizaeus-Merzbacher disease + Prieto syndrome Renpenning syndrome Say Barber Miller Syndrome sideroblastic anemia [rgd.mcw.edu]

  Churg-Strauss Syndrome (CSS) - A rare systemic vasculitis affecting the respiratory, musculoskeletal, cardiac and nervous system Refractory Autoimmune Hemolytic Anemia Toxic Shock Syndrome - IVIG treatment is required for diseases such as toxic shock [americanoutcomes.com]

  […] reported among patients receiving treatment for PI were headache (44%), pain (25%), nausea (13%), fatigue (16%), and chills (11%). 1,3,4 Common adverse effects associated with treatment for ITP include headache (65%), pyrexia/hyperthermia (37%), and anemia [pharmacytimes.com]

  Anaphylactic or immediate hypersensitivity rxn - IgE mediated (anaphylaxis, allergic rhinitis, allergic asthma, acute urticaria) Type 2: Cytotoxic antibody mediated - IgM, IgG antibodies against antigens bound to cell membrane structures (immune hemolytic anemia [quizlet.com]

  […] features : Recurrent pyogenic respiratory infections (e.g., sinopulmonary infections, rarely enteroviral meningitis ) Associated with a high risk of lymphoma, gastric cancer, and autoimmune disorders (e.g., rheumatoid arthritis, autoimmune hemolytic anemia [amboss.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]

• Nausea

  Warning/Precautions In clinical studies, the most common adverse reactions reported among patients receiving treatment for PI were headache (44%), pain (25%), nausea (13%), fatigue (16%), and chills (11%). 1,3,4 Common adverse effects associated with [pharmacytimes.com]

  Early symptoms in children include acroparesthesia, hypohidrosis, and gastrointestinal symptoms, such as, nausea, abdominal pain, and postprandial diarrhea ( 7, 8 ). However, from age 20 yr, these symptoms tend to progress and proteinuria appear. [synapse.koreamed.org]

  Side effects from or allergic reactions to immunoglobulin are infrequent, but about 3-12% of people will experience shortness of breath, sweating, increased heart rate, stomach pain, fever, chills, headache, or nausea. [encyclopedia.com]

  Occasionally, individuals with XLA have a reaction to gammaglobulin, consisting of headaches, chills, backache, or nausea. [ncbi.nlm.nih.gov]

• Failure to Thrive

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

  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]

• 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]

• Ataxia

  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]

  When the gene is affected TIMM8A DDON syndrome (Deafness Dystonia-Optic Neuropathy-) characterized by hearing loss, vision problems, and intellectual impairment -demencia- occurs, and muscle tension -distonía-, or difficulty of motor coordination (ataxia [ivami.com]

  […] lymphoproliferative syndrome 2 X-linked myopathy with excessive autophagy X-linked recessive hypophosphatemic rickets X-Linked Recessive Nephrolithiasis with Renal Failure X-linked severe combined immunodeficiency X-linked sideroblastic anemia with ataxia [rgd.mcw.edu]

  […] telangiectasia See ataxia telangiectasia. [amboss.com]

  The following conditions and diseases can lead to an immunodeficiency disorder: Ataxia-telangiectasia Complement deficiencies DiGeorge syndrome Hypogammaglobulinemia Job syndrome Leukocyte adhesion defects Bruton disease Wiskott-Aldrich syndrome Symptoms [stlukes-stl.com]

• Seizure

  We describe a 15-year-old patient with infantile X-linked agammaglobulinemia who at the age of 8 years developed a progressive encephalopathy, characterized by rare generalized seizures, progressive intellectual deterioration, signs of cerebellar and [karger.com]

  Kennedy's disease Lesch-Nyhan syndrome + Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia MASA syndrome MEHMO syndrome Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia multiple congenital anomalies-hypotonia-seizures [rgd.mcw.edu]

  In other cases, it presents with fever, headaches, seizures, and/or paralysis. [ncbi.nlm.nih.gov]

  Seizure. Apr 2012. 21:229-31. [QxMD MEDLINE Link]. Okumura A, Tsuge I, Kamachi Y et al. Transient hypogammaglobulinemia after antileptic drug hypersensitivity. Pediatr Neurol. 2007. 36:342-4. [QxMD MEDLINE Link]. [emedicine.medscape.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]

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

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]

Most patients on treatment can lead a normal life. [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]

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]

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]

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

[…] 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]

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]

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]