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Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients
TLDR
The results of this trio of studies suggest that the location, timing, and duration of IFN exposure are critical parameters underlying the success or failure of therapeutics for viral respiratory infections.
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LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
TLDR
Retrovirus vector insertion can trigger deregulated premalignant cell proliferation with unexpected frequency, most likely driven by retrovirus enhancer activity on the LMO2 gene promoter.
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Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency
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Clinical spectrum of X-linked hyper-IgM syndrome.
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Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)
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Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages.
TLDR
This revised classification system consists of 5 groups of diseases: (1) Langerhans-related, (2) cutaneous and mucocutaneous, and (3) malignant histiocytoses as well as (4) Rosai-Dorfman disease and (5) hemophagocytic lymphohistiocyts and macrophage activation syndrome.
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XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
TLDR
By identifying an XLP immunodeficiency that is caused by mutations in XIAP, it is shown that XIAP is a potent regulator of lymphocyte homeostasis in vivo.
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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
TLDR
The GTP-binding protein RAB27A appears to be involved in the control of the immune system, as all patients with RAB 27A mutations, but none with the MYO5A mutation, developed HS.
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Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)
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Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly
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