Presentation
In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation. Haematologica. 2013;98(4):e-38-e-39. DOI:10.3324/haematol.2012.070524 [ Links ] 26. Jackson CE, Puck JM. [scielo.org.mx]
Entire Body System
- Short Stature
Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]
- Increased Susceptibility to Infections
Recurrent sinopulmonary infections MedGen UID: 339549 •Concept ID: C1846546 • Finding An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. [ncbi.nlm.nih.gov]
Immune System
- Splenomegaly
Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell [ncbi.nlm.nih.gov]
Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly). Autoimmune disorders are also common in ALPS. [medlineplus.gov]
Gastrointestinal
- Chronic Diarrhea
Chronic diarrhea MedGen UID: 96036 •Concept ID: C0401151 • Finding The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. [ncbi.nlm.nih.gov]
Skin
- Skin Edema
Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. [ncbi.nlm.nih.gov]
Treatment
New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome. Curr Opin Pediatr. 2012;24(1):1-8. DOI: 10.1097/MOP.0b013e32834ea739. [ Links ] 62. Russell TB, Kurre P. [scielo.org.mx]
Prognosis
PMID: 32149866 Prognosis López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, [ncbi.nlm.nih.gov]
Etiology
Defective B cell activation Eczema Lymphadenopathy Pneumonia Recurrent herpes Reduced CD95-induced lymphocyte apoptosis Splenomegaly Abnormality of the respiratory system Recurrent sinopulmonary infections Growth abnormality Failure to thrive Short stature Etiology [ncbi.nlm.nih.gov]