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Chronic granuloma and hemolytic anemia

MedGen UID:
864972
•Concept ID:
C4016535
•
Finding
Synonym: CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA
 
OMIM®: 305900

Recent clinical studies

Etiology

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, Varilo T, Uusi-Mäkelä M, Suo-Palosaari M, Pietilä I, Hiltunen AE, Ruddock L, Alanen H, Biterova E, Miinalainen I, Salminen A, Soininen R, Manninen A, Sormunen R, Kaakinen M, Vuolteenaho R, Herva R, Vieira P, Dunder T, Kokkonen H, Moilanen JS, Rantala H, Nogee LM, Majewski J, Rämet M, Hallman M, Hinttala R
Acta Neuropathol 2018 May;135(5):727-742. Epub 2018 Feb 8 doi: 10.1007/s00401-018-1817-z. PMID: 29423877
An unusual case of generalized severe gingival enlargement during pregnancy.
McIntosh CL, Kolhatkar S, Winkler JR, Ojha J, Bhola M
Gen Dent 2010 Nov-Dec;58(6):e272-8. PMID: 21062713
Granuloma annulare and disseminated herpes zoster.
Zanolli MD, Powell BL, McCalmont T, White WL, Jorizzo JL
Int J Dermatol 1992 Jan;31(1):55-7. doi: 10.1111/j.1365-4362.1992.tb03523.x. PMID: 1737692
Pathological spectrum of liver diseases in sickle cell disease.
Omata M, Johnson CS, Tong M, Tatter D
Dig Dis Sci 1986 Mar;31(3):247-56. doi: 10.1007/BF01318115. PMID: 3948629

Diagnosis

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.
Chau AS, Cole BL, Debley JS, Nanda K, Rosen ABI, Bamshad MJ, Nickerson DA, Torgerson TR, Allenspach EJ
Pediatr Rheumatol Online J 2020 Oct 16;18(1):80. doi: 10.1186/s12969-020-00474-1. PMID: 33066778Free PMC Article
An unusual case of generalized severe gingival enlargement during pregnancy.
McIntosh CL, Kolhatkar S, Winkler JR, Ojha J, Bhola M
Gen Dent 2010 Nov-Dec;58(6):e272-8. PMID: 21062713
Granuloma annulare and disseminated herpes zoster.
Zanolli MD, Powell BL, McCalmont T, White WL, Jorizzo JL
Int J Dermatol 1992 Jan;31(1):55-7. doi: 10.1111/j.1365-4362.1992.tb03523.x. PMID: 1737692
Complete deficiency of leukocyte glucose-6-phosphate dehydrogenase with defective bactericidal activity.
Cooper MR, DeChatelet LR, McCall CE, LaVia MF, Spurr CL, Baehner RL
J Clin Invest 1972 Apr;51(4):769-78. doi: 10.1172/JCI106871. PMID: 4401271Free PMC Article

Therapy

Liver and kidney diseases.
Wong F
Clin Liver Dis 2002 Nov;6(4):981-1011. doi: 10.1016/s1089-3261(02)00053-3. PMID: 12516203

Prognosis

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.
Chau AS, Cole BL, Debley JS, Nanda K, Rosen ABI, Bamshad MJ, Nickerson DA, Torgerson TR, Allenspach EJ
Pediatr Rheumatol Online J 2020 Oct 16;18(1):80. doi: 10.1186/s12969-020-00474-1. PMID: 33066778Free PMC Article
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, Varilo T, Uusi-Mäkelä M, Suo-Palosaari M, Pietilä I, Hiltunen AE, Ruddock L, Alanen H, Biterova E, Miinalainen I, Salminen A, Soininen R, Manninen A, Sormunen R, Kaakinen M, Vuolteenaho R, Herva R, Vieira P, Dunder T, Kokkonen H, Moilanen JS, Rantala H, Nogee LM, Majewski J, Rämet M, Hallman M, Hinttala R
Acta Neuropathol 2018 May;135(5):727-742. Epub 2018 Feb 8 doi: 10.1007/s00401-018-1817-z. PMID: 29423877
An unusual case of generalized severe gingival enlargement during pregnancy.
McIntosh CL, Kolhatkar S, Winkler JR, Ojha J, Bhola M
Gen Dent 2010 Nov-Dec;58(6):e272-8. PMID: 21062713
Liver and kidney diseases.
Wong F
Clin Liver Dis 2002 Nov;6(4):981-1011. doi: 10.1016/s1089-3261(02)00053-3. PMID: 12516203
Granuloma annulare and disseminated herpes zoster.
Zanolli MD, Powell BL, McCalmont T, White WL, Jorizzo JL
Int J Dermatol 1992 Jan;31(1):55-7. doi: 10.1111/j.1365-4362.1992.tb03523.x. PMID: 1737692

Clinical prediction guides

Non-infectious Complications of Common Variable Immunodeficiency: Updated Clinical Spectrum, Sequelae, and Insights to Pathogenesis.
Ho HE, Cunningham-Rundles C
Front Immunol 2020;11:149. Epub 2020 Feb 7 doi: 10.3389/fimmu.2020.00149. PMID: 32117289Free PMC Article
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, Varilo T, Uusi-Mäkelä M, Suo-Palosaari M, Pietilä I, Hiltunen AE, Ruddock L, Alanen H, Biterova E, Miinalainen I, Salminen A, Soininen R, Manninen A, Sormunen R, Kaakinen M, Vuolteenaho R, Herva R, Vieira P, Dunder T, Kokkonen H, Moilanen JS, Rantala H, Nogee LM, Majewski J, Rämet M, Hallman M, Hinttala R
Acta Neuropathol 2018 May;135(5):727-742. Epub 2018 Feb 8 doi: 10.1007/s00401-018-1817-z. PMID: 29423877
Complete deficiency of leukocyte glucose-6-phosphate dehydrogenase with defective bactericidal activity.
Cooper MR, DeChatelet LR, McCall CE, LaVia MF, Spurr CL, Baehner RL
J Clin Invest 1972 Apr;51(4):769-78. doi: 10.1172/JCI106871. PMID: 4401271Free PMC Article

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