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Autoinflammation with pulmonary and cutaneous vasculitis(AIPCV)

MedGen UID:
1841007
Concept ID:
C5830371
Disease or Syndrome
Synonym: AIPCV
 
Gene (location): HCK (20q11.21)
 
Monarch Initiative: MONDO:0957204
OMIM®: 620296

Definition

Autoinflammation with pulmonary and cutaneous vasculitis (AIPCV) is a disorder of immune dysregulation manifest as skin lesions (petechiae and purpura) appearing soon after birth followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. Other features may include hepatosplenomegaly and anemia (Kanderova et al., 2022). [from OMIM]

Clinical features

From HPO
Vasculitis in the skin
MedGen UID:
488809
Concept ID:
C0262988
Disease or Syndrome
A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Interstitial pneumonitis
MedGen UID:
61507
Concept ID:
C0206061
Disease or Syndrome
Inflammation of interstitial lung tissue, usually associated with infection.
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Respiratory failure
MedGen UID:
257837
Concept ID:
C1145670
Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Restrictive ventilatory defect
MedGen UID:
478856
Concept ID:
C3277226
Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
Purpura (from Latin

Professional guidelines

PubMed

Kouranloo K, Dey M, Almutawa J, Myall N, Nune A
Rheumatol Int 2024 Jul;44(7):1219-1232. Epub 2023 Dec 21 doi: 10.1007/s00296-023-05513-0. PMID: 38129348

Recent clinical studies

Etiology

van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A
J Allergy Clin Immunol 2022 Jan;149(1):432-439.e4. Epub 2021 May 25 doi: 10.1016/j.jaci.2021.05.014. PMID: 34048852

Diagnosis

Kouranloo K, Dey M, Almutawa J, Myall N, Nune A
Rheumatol Int 2024 Jul;44(7):1219-1232. Epub 2023 Dec 21 doi: 10.1007/s00296-023-05513-0. PMID: 38129348
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A
J Allergy Clin Immunol 2022 Jan;149(1):432-439.e4. Epub 2021 May 25 doi: 10.1016/j.jaci.2021.05.014. PMID: 34048852
Chia J, Eroglu FK, Özen S, Orhan D, Montealegre-Sanchez G, de Jesus AA, Goldbach-Mansky R, Cowen EW
J Am Acad Dermatol 2016 Jan;74(1):186-9. Epub 2015 Nov 14 doi: 10.1016/j.jaad.2015.10.007. PMID: 26584874Free PMC Article

Therapy

Kouranloo K, Dey M, Almutawa J, Myall N, Nune A
Rheumatol Int 2024 Jul;44(7):1219-1232. Epub 2023 Dec 21 doi: 10.1007/s00296-023-05513-0. PMID: 38129348

Prognosis

Kanderova V, Svobodova T, Borna S, Fejtkova M, Martinu V, Paderova J, Svaton M, Kralova J, Fronkova E, Klocperk A, Pruhova S, Lee-Kirsch MA, Hornofova L, Koblizek M, Novak P, Zimmermannova O, Parackova Z, Sediva A, Kalina T, Janda A, Kayserova J, Dvorakova M, Macek M, Pohunek P, Sedlacek P, Poh A, Ernst M, Brdicka T, Hrusak O, Lebl J
J Allergy Clin Immunol 2022 Apr;149(4):1464-1472.e3. Epub 2021 Sep 15 doi: 10.1016/j.jaci.2021.07.046. PMID: 34536415
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A
J Allergy Clin Immunol 2022 Jan;149(1):432-439.e4. Epub 2021 May 25 doi: 10.1016/j.jaci.2021.05.014. PMID: 34048852

Clinical prediction guides

Kouranloo K, Dey M, Almutawa J, Myall N, Nune A
Rheumatol Int 2024 Jul;44(7):1219-1232. Epub 2023 Dec 21 doi: 10.1007/s00296-023-05513-0. PMID: 38129348

Recent systematic reviews

Kouranloo K, Dey M, Almutawa J, Myall N, Nune A
Rheumatol Int 2024 Jul;44(7):1219-1232. Epub 2023 Dec 21 doi: 10.1007/s00296-023-05513-0. PMID: 38129348

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