Chronic granulomatous skin lesions leading to a diagnosis of <scp>TAP</scp>1 deficiency syndrome

Law-Ping-Man, S.; Toutain, F.; Rieux‐Laucat, Frédéric; Pïcard, Capucine; Kammerer-Jacquet, Solène; Magérus-Chatinet, Aude; Dupuy, Alain; Adamski, H.

doi:10.1111/pde.13676

Cited by 15 publications

(5 citation statements)

References 11 publications

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“…Most of the patients described to date have serious and chronic bacterial infections of the respiratory tract (leading to bronchiectasis), whereas viral infections of course occur but are not exceptionally severe (3). In addition, most of them also suffer from deep skin ulcers on the legs that are healing very slowly and are difficult to treat (3, 27, 29). They might even develop granulomatous lesions of the nose, leading to the complete destruction of the nasal cartilage.…”

Section: Discussionmentioning

confidence: 99%

“…This individual was heavily infected in the airways at the time of blood drawing, and thus her NK cells might have been activated in vivo . Over the years, several additional patient observations appeared in the literature, focusing more on the clinical aspects (22–29). Based on the number of published cases, TAP deficiency is extremely rare, but there are probably much more patients, as the frequent diagnosis of idiopathic bronchiectasis only seldomly leads to a check for normal HLA class I expression (30), and as the diagnosis is probably often not made in regions with a difficult access to medical structures and a high consanguinity rate.…”

Section: Further Cases Of Tap Deficiencymentioning

confidence: 99%

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Alessandro Moretta and Transporter Associated With Antigen Processing (TAP) Deficiency: On Giant's Shoulders

Zimmer

2019

Front. Immunol.

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The laboratory hosting me for my Ph.D. described in 1994 the first human cases of TAP deficiency in two siblings with recurrent bacterial airway infections and a negative Human Leukocyte Antigen class I (HLA) serotyping. At this time, it became clear that natural killer (NK) cells interact with HLA class I molecules which inhibit them. Inhibitory receptors were postulated, and Alessandro Moretta was the first to generate monoclonal anti-human NK cell antibodies that bound to such molecules, which he characterized in detail (Killer Immunoglobulin-like receptors—KIR). Natural killer cells from healthy donors preferentially kill targets with absent HLA class I molecules (“missing self” concept), whereas we observed that the NK cells from the TAP-deficient patients were hypo-responsive and did not lyse the HLA class I-negative leukemia cell line K562. Moreover, they were not very active in antibody-dependent cellular cytotoxicity assays. To address the question if such NK cells would express KIR or not, my thesis supervisor requested the anti-KIR antibodies from Alessandro Moretta, who was kind enough to provide us generously with aliquots. It turned out that the NK cells from the TAP-deficient individuals expressed most of these inhibitory receptors normally. We then had the privilege to receive almost every new antibody generated in the Moretta lab and to complete the phenotypic studies of the NK cells from our patients. I had the great chance to meet Alessandro Moretta at several occasions. He deeply impressed me each time and strongly influenced my way of thinking.

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Section: Discussionmentioning

confidence: 99%

Section: Further Cases Of Tap Deficiencymentioning

confidence: 99%

Alessandro Moretta and Transporter Associated With Antigen Processing (TAP) Deficiency: On Giant's Shoulders

Zimmer

2019

Front. Immunol.

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“…It is hypothesized that previous infections may induce the accumulation of NK and γδ T cells in the cutaneous tissue ( 195 , 196 ). Before starting the treatment, a differential diagnosis should be made carefully because, in these patients, immunosuppressive therapy is useless and, in some cases, harmful because it can be associated with the progression of lesions ( 197 ).…”

Section: Monogenic Lupusmentioning

confidence: 99%

Vasculitis and vasculopathy associated with inborn errors of immunity: an overview

Federici,

Cinicola,

La Torre

et al. 2024

Front. Pediatr.

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Systemic autoinflammatory diseases (SAIDs) are disorders of innate immunity, which are characterized by unprovoked recurrent flares of systemic inflammation often characterized by fever associated with clinical manifestations mainly involving the musculoskeletal, mucocutaneous, gastrointestinal, and nervous systems. Several conditions also present with varied, sometimes prominent, involvement of the vascular system, with features of vasculitis characterized by variable target vessel involvement and organ damage. Here, we report a systematic review of vasculitis and vasculopathy associated with inborn errors of immunity.

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“…RAG1 geni mutasyonu ve TAP1 eksikliğine bağlı oluşan granülomlar buna örnek verilebilir. 15,16 Monilyazis ve granülomlar yalnız bu gruba özgün olmayıp diğer gruplarda da görülebilir. Yine DOCK8 eksikliğine bağlı şiddetli egzama tabloları ve bu zeminde gelişen bakteriyel (stafi lokok) -mantar (tinea) -viral (molluskum kontajiosum ve Herpes) enfeksiyonlar da görülebilir.…”

Section: I-kombine Immün Yetmezliklerunclassified

Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları

Özdemir¹

2022

Sakarya Medical Journal

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Primer immün yetmezlik hastalık tipleri günümüzde bilindiği gibi 450 hastalığı geçmiş bulunmaktadır. Farkındalığın artması ve tanı yöntemlerinin gelişmesi ile nadir olarak görülmekten çıkmışlar ve sık görülen hastalıklar haline gelmeye başlamışlardır. Bu hastalıklara cilt bulguları açısından yaklaşmak ve tanımak bu derlemenin asıl amacıdır. Primer immün yetmezlik hastalıklarının 10 uyarıcı işaretlerinden ikisi cilt bulgularından olmakla beraber sadece (bakteriyel ya da fungal) enfeksiyöz cilt bulgularını düşündürtmektedir. Bunlardan ilki tekrarlayan derin cilt apseleri ve diğeri cilt üzerindeki persistan mantar enfeksiyonu (tinea / dermatofitoz) olmasıdır. Cilt bulgularının sık olarak primer immün yetmezlik hastalıklarında görüldüğü bilinmelidir. En sık enfeksiyonlara (bakteriyel) ait cilt bulguları görünmesine rağmen, onu enfeksiyöz olmayan (non-enfeksiyöz) tipte immüno-alerjik bulgu olarak egzama (atopik dermatit) izler. İmmüno-alerjik olmayan bulgulardan bazıları ise epidermal displazi, telenjiektazi vb. belirtilerdir. Bu deri belirtileri, bazen primer immün yetmezlik hastalığının ilk geliş bulgularından biri olabilir. Her zaman bu bulgular çok özgün de olmayabilir.

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Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome

Cited by 15 publications

References 11 publications

Alessandro Moretta and Transporter Associated With Antigen Processing (TAP) Deficiency: On Giant's Shoulders

Alessandro Moretta and Transporter Associated With Antigen Processing (TAP) Deficiency: On Giant's Shoulders

Vasculitis and vasculopathy associated with inborn errors of immunity: an overview

Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları

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