Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

Immunodeficiency

Improvement of common variable immunodeficiency using embryonic stem cell therapy in a patient with lyme disease: a clinical case report

Clin Case Rep.

Horowitz R, Freeman PR

doi: 10.1002/ccr3.1556.

Immunodeficiency

The IL2RG R328X nonsense mutation allows partial STAT5 phosphorylation and defines a critical region involved in leaky-SCID phenotype

Clin Exp Immunol.

Arcas-García A, Garcia-Prat M, Magallón-Lorenz M, Martin-Nalda A, Drechsel O, Ossowski S, Alonso L, Rivière JG, Soler-Palacín P, Colobran R, Sayós J, Martinez-Gallo M, Franco-Jarava C

doi: 10.1111/cei.13405.

Immunodeficiency

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations

Clin Immunol.

Maccari ME, Speckmann C, Heeg M, Reimer A, Casetti F, Has C, Ehl S, Castro CN

doi: 10.1016/j.clim.

Systemic Lupus Erythematosus

An atypical case of late-onset systemic lupus erythematosus with systemic lymphadenopathy and severe autoimmune thrombocytopenia/neutropenia mimicking malignant lymphoma

Int J Hematol.

Tamaki K, Morishima S, Nakachi S, Kitamura S, Uchibori S, Tomori S, Hanashiro T, Shimabukuro N, Tedokon I, Morichika K, Nishi Y, Tomoyose T, Karube K, Fukushima T, Masuzaki H

doi: 10.1007/s12185-016-2126-8.

Immunodeficiency

Two X-linked agammaglobulinemia patients develop pneumonia as COVID-19 manifestation but recover

Pediatr Allergy Immunol.

Soresina A, Moratto D, Chiarini M, Paolillo C, Baresi G, Focà E, Bezzi M, Baronio B, Giacomelli M, Badolato R

doi: 10.1111/pai.13263.

Immunodeficiency

Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections

Clin Immunol.

Sharapova SO, Haapaniemi E, Sakovich IS, Kostyuchenko LV, Donkó A, Dulau-Florea A, Malko O, Bondarenko AV, Stegantseva MV, Leto TL, Uygun V, Karasu GT, Holland SM, Hsu AP, Aleinikova OV

doi: 10.1016/j.clim.

Immunodeficiency

Progressive B Cell Loss in Revertant X-SCID

J Clin Immunol.

Lin CH, Kuehn HS, Thauland TJ, Lee CM, De Ravin SS, Malech HL, Keyes TJ, Jager A, Davis KL, Garcia-Lloret MI, Rosenzweig SD, Butte MJ

doi: 10.1007/s10875-020-00825-3.

Immunodeficiency

First case report of acquired generalized lipodystrophy associated with common variable immunodeficiency

doi: 10.1210/jc.2018-00494.

Immunodeficiency

X-Linked Hyper IgM Syndrome Presenting with Recurrent Tuberculosis-a Case Report

J Clin Immunol.

Krishnan VP, Taur P, Pandrowala A, Madkaikar M, Desai M

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Related content

Improvement of common variable immunodeficiency using embryonic stem cell therapy in a patient with lyme disease: a clinical case report

The IL2RG R328X nonsense mutation allows partial STAT5 phosphorylation and defines a critical region involved in leaky-SCID phenotype

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations

An atypical case of late-onset systemic lupus erythematosus with systemic lymphadenopathy and severe autoimmune thrombocytopenia/neutropenia mimicking malignant lymphoma

Two X-linked agammaglobulinemia patients develop pneumonia as COVID-19 manifestation but recover

Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections

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